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
ZNF25	219749	broad.mit.edu	37	10	38242626	38242626	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:38242626G>A	ENST00000302609.7	-	5	511	c.299C>T	c.(298-300)tCa>tTa	p.S100L	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	100					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)				AACTTGCCTTGAATTTCCAGC	0.353000													27	42					0	0	1	0	0
HECTD3	79654	broad.mit.edu	37	1	45474001	45474001	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:45474001G>A	ENST00000372168.3	-	1	222	c.61C>T	c.(61-63)Cat>Tat	p.H21Y	HECTD3_ENST00000372172.4_Intron			Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	0					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					AATCTGGCATGGGTAGATAGA	0.532000													44	23					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2845063	2845063	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:2845063C>T	ENST00000380445.3	+	18	1845	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F	PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380443.3_Silent_p.F277F|VPS16_ENST00000380469.3_Silent_p.F447F	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	591					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						GAGATTTTTTCATGACCCTTC	0.537000													42	58					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7122668	7122668	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:7122668C>T	ENST00000341500.5	-	18	3489	c.3450G>A	c.(3448-3450)gcG>gcA	p.A1150A	INSR_ENST00000302850.5_Silent_p.A1162A	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1162	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGCAGTTTCTCGCTGCCAGGT	0.507000													34	43					0	0	1	0	0
PLGLA	285189	broad.mit.edu	37	2	107007392	107007392	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:107007392G>A	ENST00000484422.1	+	0	241																											ACTGGGAATGGAAAGAACTAC	0.463000													8	18					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402697	248402697	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248402697G>A	ENST00000306687.1	+	1	467	c.467G>A	c.(466-468)gGg>gAg	p.G156E		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	156					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)			TCTCTTGATGGGATCATAGTG	0.458000													117	78					0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25419792	25419792	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:25419792C>T	ENST00000315368.3	+	29	2357	c.2215C>T	c.(2215-2217)Cgt>Tgt	p.R739C	ANAPC4_ENST00000510092.1_Missense_Mutation_p.R740C	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	739					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CTCAAATCTTCGTCATGTGAG	0.328000													72	100					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120760619	120760619	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:120760619G>A	ENST00000273666.6	+	4	631	c.360G>A	c.(358-360)ttG>ttA	p.L120L	STXBP5L_ENST00000492541.1_Silent_p.L120L|STXBP5L_ENST00000472879.1_Silent_p.L120L|STXBP5L_ENST00000471454.1_Silent_p.L120L|STXBP5L_ENST00000497029.1_Silent_p.L120L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	120					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)		TCCAATTTTTGATCAATGAGG	0.358000													18	23					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276152	152276152	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:152276152G>A	ENST00000368799.1	-	3	11245	c.11210C>T	c.(11209-11211)tCc>tTc	p.S3737F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3737	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)			CTCGTGGCGGGATCCTTGTCT	0.602000									Ichthyosis				416	249					0	0	1	0	0
RSAD2	91543	broad.mit.edu	37	2	7035934	7035934	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:7035934G>A	ENST00000382040.3	+	6	1083	c.947G>A	c.(946-948)gGa>gAa	p.G316E	RSAD2_ENST00000541728.1_Missense_Mutation_p.G209E	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	316					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TGTAGAAAGGGACGGAAGGAC	0.383000													19	40					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72683322	72683322	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:72683322C>T	ENST00000425256.1	-	0	201					NR_002164.1																						TTCCGGAAGCCCCTGCACTAC	0.478000													54	87					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113773019	113773019	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:113773019G>A	ENST00000375581.3	+	9	1133	c.1098G>A	c.(1096-1098)atG>atA	p.M366I	F7_ENST00000346342.3_Missense_Mutation_p.M344I|F7_ENST00000541084.1_Missense_Mutation_p.M297I	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	366	Peptidase S1.				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)	CCCGGCTGATGACCCAGGACT	0.632000													13	25					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189855065	189855065	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:189855065C>T	ENST00000304636.3	+	10	947	c.777C>T	c.(775-777)ttC>ttT	p.F259F	COL3A1_ENST00000317840.5_Silent_p.F259F	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	259	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)	TACCTGGATTCCCTGGTATGA	0.348000													15	23					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144930705	144930705	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:144930705C>T	ENST00000529945.1	-	1	1443	c.1004G>A	c.(1003-1005)gGt>gAt	p.G335D	PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G335D|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					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)		GTTAAGGAAACCGGAACTAAC	0.532000			T	PDGFRB	MPD								65	159					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121973135	121973135	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:121973135C>T	ENST00000498619.1	+	2	537	c.99C>T	c.(97-99)atC>atT	p.I33I	CASR_ENST00000296154.5_Silent_p.I33I|CASR_ENST00000490131.1_Silent_p.I33I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	33					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	p.I33I(1)		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)	GGGACATTATCCTTGGGGGGC	0.522000													59	52					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48413860	48413860	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:48413860G>A	ENST00000249598.1	-	2	1167	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	336					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	p.F336F(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGATGTCCTCGAAGTTTACCC	0.607000													32	72					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359593	72359593	+	Silent	SNP	G	G	A	rs146777162		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:72359593G>A	ENST00000001146.2	-	6	1505	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F	CYP26B1_ENST00000546307.1_Silent_p.F359F|CYP26B1_ENST00000412253.1_Silent_p.F243F	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	434					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						CACCGCCACCGAACGGGAGGT	0.642000													21	35					0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177036896	177036896	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:177036896A>G	ENST00000468418.3	+	4	3283	c.1193A>G	c.(1192-1194)aAc>aGc	p.N398S	HOXD3_ENST00000249440.3_Missense_Mutation_p.N398S|HOXD3_ENST00000410016.1_Missense_Mutation_p.N398S			P31249	HXD3_HUMAN	homeobox D3	398					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ATTCCAGGCAACCACCACCAT	0.652000													17	29					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31862830	31862830	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:31862830C>T	ENST00000396184.3	-	15	1643	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q	PDE1C_ENST00000396193.1_Missense_Mutation_p.R540Q|PDE1C_ENST00000321453.7_Missense_Mutation_p.R480Q|PDE1C_ENST00000396191.1_Missense_Mutation_p.R480Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.R480Q	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	480	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)			GACACCTGATCGCTTGGCATC	0.438000													23	42					0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6751278	6751278	+	Missense_Mutation	SNP	G	G	A	rs67734276		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:6751278G>A	ENST00000596758.1	+	14	1723	c.1723G>A	c.(1723-1725)Gag>Aag	p.E575K	TRIP10_ENST00000313244.9_3'UTR|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000600428.1_3'UTR|TRIP10_ENST00000313285.8_3'UTR			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	0	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G (By similarity).|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GGGCCACGGGGAGCCCCAGGA	0.632000													18	28					0	0	1	0	0
LGALS13	29124	broad.mit.edu	37	19	40095258	40095258	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:40095258C>T	ENST00000221797.4	+	2	77	c.32C>T	c.(31-33)cCt>cTt	p.P11L		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	11	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TACAAACTGCCTGTGTCTTTG	0.493000													34	61					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141135	63141135	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:63141135C>T	ENST00000279178.3	+	3	775	c.526C>T	c.(526-528)Ctc>Ttc	p.L176F	SLC22A9_ENST00000310969.4_Intron	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	176					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAGGTTCGTGCTCAGATGGTG	0.463000													40	46					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70617443	70617443	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:70617443G>A	ENST00000260126.3	-	6	2151	c.1445C>T	c.(1444-1446)gCt>gTt	p.A482V	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A482V|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A427V	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	482						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)			ACCAACACCAGCACTGGGGAC	0.408000													39	56					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31375078	31375078	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:31375078C>T	ENST00000328111.2	+	6	796	c.475C>T	c.(475-477)Ccg>Tcg	p.P159S	DNMT3B_ENST00000353855.2_Missense_Mutation_p.P159S|DNMT3B_ENST00000375623.4_Missense_Mutation_p.P117S|DNMT3B_ENST00000348286.2_Missense_Mutation_p.P159S|DNMT3B_ENST00000344505.4_Missense_Mutation_p.P159S|DNMT3B_ENST00000456297.2_Missense_Mutation_p.P83S|DNMT3B_ENST00000201963.3_Missense_Mutation_p.P171S|DNMT3B_ENST00000443239.3_Missense_Mutation_p.P117S	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	159	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						AACGCCATGGCCGTCCCCTCC	0.612000													20	96					0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1684648	1684648	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:1684648G>A	ENST00000305513.7	-	11	2514	c.2347C>T	c.(2347-2349)Cag>Tag	p.Q783*		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	783							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						TGGAGCTCCTGGATTTCATCG	0.537000													25	39					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35779418	35779418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:35779418C>T	ENST00000440995.2	+	30	4402	c.4402C>T	c.(4402-4404)Cga>Tga	p.R1468*	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.R1473*|SPEF2_ENST00000303129.4_5'UTR			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1473					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)			TGACAGTCTTCGAGATCAGTT	0.398000													15	78					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38601809	38601809	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:38601809C>T	ENST00000413689.1	-	23	4267	c.4074G>A	c.(4072-4074)ggG>ggA	p.G1358G	SCN5A_ENST00000451551.2_Silent_p.G1304G|SCN5A_ENST00000449557.2_Silent_p.G1304G|SCN5A_ENST00000443581.1_Silent_p.G1357G|SCN5A_ENST00000425664.1_Silent_p.G1358G|SCN5A_ENST00000423572.2_Silent_p.G1357G|SCN5A_ENST00000414099.2_Silent_p.G1358G|SCN5A_ENST00000455624.2_Silent_p.G1357G|SCN5A_ENST00000333535.4_Silent_p.G1358G|SCN5A_ENST00000450102.2_Silent_p.G1304G	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1358					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)	TCCCAAACTTCCCCGCAAAGA	0.547000													23	34					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817335	69817335	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:69817335C>T	ENST00000251566.4	-	1	174	c.144G>A	c.(142-144)gtG>gtA	p.V48V		NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	48						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						CATGGCCTCTCACTATGAGCT	0.468000													38	78					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43170848	43170848	+	Splice_Site	SNP	T	T	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:43170848T>G	ENST00000252050.4	+	18	3839	c.3753_splice	c.e18-1	p.V1252_splice	CUL9_ENST00000372647.2_Splice_Site_p.V1252_splice|CUL9_ENST00000354495.3_Splice_Site_p.V1142_splice	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1252	DOC.				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						CCCTACCAGGTGAATGTGATG	0.547000													19	59					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66429990	66429990	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:66429990G>A	ENST00000341529.3	+	8	1394	c.1246G>A	c.(1246-1248)Ggc>Agc	p.G416S	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	416	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CAGTGACAAGGGCCAGTTCTT	0.493000													42	46					0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118919815	118919815	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:118919815G>A	ENST00000404233.3	-	17	2031	c.1907C>T	c.(1906-1908)cCc>cTc	p.P636L	HYOU1_ENST00000543287.1_3'UTR|HYOU1_ENST00000529972.1_Intron|HYOU1_ENST00000525859.1_Intron	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	636	Poly-Pro.					endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		AGGGGGTGGGGGCTGAGAGCC	0.607000													22	33					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64984768	64984768	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:64984768C>T	ENST00000394156.3	-	12	2249	c.1796G>A	c.(1795-1797)gGg>gAg	p.G599E	CDH11_ENST00000268603.4_Missense_Mutation_p.G599E|CDH11_ENST00000566827.1_Missense_Mutation_p.G473E			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	599	Cadherin 5.				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)		GAGCAGTGCCCCGTTCACGTC	0.607000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			26	34					0	0	1	0	0
IPCEF1	26034	broad.mit.edu	37	6	154567818	154567818	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:154567818C>T	ENST00000265198.4	-	5	305	c.150G>A	c.(148-150)aaG>aaA	p.K50K	IPCEF1_ENST00000422970.2_Silent_p.K51K|IPCEF1_ENST00000367220.4_Silent_p.K51K|IPCEF1_ENST00000519344.1_Silent_p.K22K|OPRM1_ENST00000337049.4_Intron	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						TTTCCTTTTTCTTATACAGCC	0.443000													64	97					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50740563	50740563	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:50740563G>A	ENST00000008391.3	+	8	1573	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	449							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)					GGGCAAAACAGAAAAGACAGA	0.458000													17	31					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72170394	72170394	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:72170394G>A	ENST00000537465.1	-	9	1314	c.1156C>T	c.(1156-1158)Cag>Tag	p.Q386*	PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.Q386*|PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.Q241*			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	386										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)				AACTCCAGCTGCAGCTCCTGC	0.567000													78	69					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167284417	167284417	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:167284417C>T	ENST00000409855.1	-	17	2860	c.2734G>A	c.(2734-2736)Gga>Aga	p.G912R		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	912					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						TTGGATGCTCCACTGATTTGA	0.383000													20	25					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1271281	1271281	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:1271281G>A	ENST00000308624.5	+	14	1351	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	SNTG2_ENST00000407292.1_Missense_Mutation_p.E281K	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	408	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)		GCTTGGCAGCGAGCTGGCCAT	0.532000													16	20					0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94316683	94316683	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:94316683C>T	ENST00000299001.6	+	5	794	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	195					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAAGAGGGAGCTGCCATCAAG	0.418000													78	116					0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140242630	140242630	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:140242630G>A	ENST00000340951.4	-	17	2086	c.1891C>T	c.(1891-1893)Cgt>Tgt	p.R631C	EXD3_ENST00000342129.4_Intron	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	631					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						CACACCACACGGAAGGCCCTG	0.667000													7	7					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6595050	6595050	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:6595050T>A	ENST00000321612.6	-	9	1375	c.1225A>T	c.(1225-1227)Agg>Tgg	p.R409W		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	409					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)	TGTACCCTCCTAGCAATATGC	0.378000													93	33					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120744391	120744391	+	Missense_Mutation	SNP	G	G	A	rs146351425		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:120744391G>A	ENST00000378164.2	-	26	3671	c.3373C>T	c.(3373-3375)Cca>Tca	p.P1125S		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1125					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTTGCCGCTGGATGCATACTC	0.433000													69	101					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71426727	71426727	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:71426727G>A	ENST00000392650.3	-	12	1506	c.1506C>T	c.(1504-1506)ccC>ccT	p.P502P	SDK2_ENST00000388726.3_Silent_p.P502P	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	502	Ig-like C2-type 6.				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						TCTGATCCTGGGGGGGCTTGG	0.602000													7	15					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48529989	48529989	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:48529989G>A	ENST00000358350.4	-	52	7743	c.7140_splice	c.e52+1	p.S2380_splice	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Splice_Site_p.S2380_splice|FRYL_ENST00000503238.1_Splice_Site_p.S2380_splice	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2380					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						ATTACTCACTGATGGGTTCTT	0.368000													23	29					0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47583863	47583863	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:47583863C>T	ENST00000172229.3	+	3	536	c.411C>T	c.(409-411)tcC>tcT	p.S137S	NGFR_ENST00000504201.1_Silent_p.S43S|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	137					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)					TCGTGTTCTCCTGCCAGGACA	0.692000													9	20					0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54424406	54424406	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:54424406G>A	ENST00000334206.5	-	7	913	c.737C>T	c.(736-738)gCc>gTc	p.A246V	CDC20B_ENST00000296733.1_Missense_Mutation_p.A246V|CDC20B_ENST00000322374.6_Missense_Mutation_p.A246V|CDC20B_ENST00000381375.2_Missense_Mutation_p.A246V			Q86Y33	CD20B_HUMAN	cell division cycle 20B	246										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)			CAGGGCTATGGCAACAAGATT	0.363000													40	68					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151234635	151234635	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:151234635C>T	ENST00000274576.4	-	6	955	c.663G>A	c.(661-663)aaG>aaA	p.K221K	GLRA1_ENST00000545569.1_Silent_p.K138K|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Silent_p.K221K	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	221					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)	ATCTCAAGTCCTTCTCTTCCT	0.517000													40	45					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933123	43933123	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:43933123C>T	ENST00000537548.1	-	4	632	c.388G>A	c.(388-390)Ggc>Agc	p.G130S	MATN4_ENST00000372754.1_Missense_Mutation_p.G130S|MATN4_ENST00000353917.5_Missense_Mutation_p.G130S|MATN4_ENST00000342716.4_Missense_Mutation_p.G130S|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Missense_Mutation_p.G130S|MATN4_ENST00000360607.5_Missense_Mutation_p.G130S			O95460	MATN4_HUMAN	matrilin 4	130	VWFA 1.					extracellular region	protein binding			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)				GGTCGCGCGCCCTCGGCCACA	0.716000													7	10					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1426855	1426855	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:1426855G>A	ENST00000345913.4	+	3	224	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	TPO_ENST00000337415.3_Missense_Mutation_p.E45K|TPO_ENST00000329066.4_Missense_Mutation_p.E45K|TPO_ENST00000382201.3_Missense_Mutation_p.E45K|TPO_ENST00000382198.1_Missense_Mutation_p.E45K|TPO_ENST00000382269.3_Missense_Mutation_p.E45K|TPO_ENST00000349624.3_Missense_Mutation_p.E45K|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.E45K|TPO_ENST00000539820.1_Missense_Mutation_p.E45K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	45					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)	CGTCTTGGAGGAAAGCAAGCG	0.587000													13	26					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69002331	69002331	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:69002331G>A	ENST00000409220.1	+	1	399	c.19G>A	c.(19-21)Gcc>Acc	p.A7T	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.A7T|ARHGAP25_ENST00000456116.2_Intron|ARHGAP25_ENST00000544262.1_Intron|ARHGAP25_ENST00000409202.3_Intron|ARHGAP25_ENST00000295381.3_Intron|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.A7T|ARHGAP25_ENST00000467265.1_Intron	NM_001166276.1	NP_001159748.1	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	0					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						CGGTCAGTCGGCCTGTCTGTT	0.627000													100	176					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46365594	46365594	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:46365594G>A	ENST00000359930.4	-	3	1119	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S	SULF2_ENST00000361612.4_Missense_Mutation_p.P90S|SULF2_ENST00000484875.1_Missense_Mutation_p.P90S|SULF2_ENST00000467815.1_Missense_Mutation_p.P90S|SULF2_ENST00000478766.1_5'UTR	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	90					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						GAGCGTGAGGGGCAGCACATG	0.592000													33	44					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4859884	4859884	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:4859884C>T	ENST00000302640.8	+	59	8291	c.7941C>T	c.(7939-7941)acC>acT	p.T2647T	AC018816.3_ENST00000441894.1_Intron|AC018816.3_ENST00000489771.1_Intron|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000544951.1_Silent_p.T625T|ITPR1_ENST00000456211.2_Silent_p.T2599T|ITPR1_ENST00000443694.2_Silent_p.T2647T|ITPR1_ENST00000423119.2_Silent_p.T2614T|ITPR1_ENST00000354582.6_Silent_p.T2647T|ITPR1_ENST00000357086.4_Silent_p.T2614T	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2662					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGGACTCCACCGAATATACTG	0.498000													12	30					0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117297532	117297532	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:117297532G>A	ENST00000369478.3	+	2	449	c.341G>A	c.(340-342)gGa>gAa	p.G114E	CD2_ENST00000369477.1_Missense_Mutation_p.G114E	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	114	Ig-like V-type.|LFA-3 (CD58) binding region 2.				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)	GATACAAAAGGAAAAAATGTG	0.308000													19	38					0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78423706	78423706	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:78423706G>A	ENST00000274353.5	+	7	1044	c.937G>A	c.(937-939)Gag>Aag	p.E313K	BHMT_ENST00000524080.1_Missense_Mutation_p.E160K|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	313	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	AATTGCAGAGGAGCTGGCCCC	0.537000													11	28					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168180103	168180103	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:168180103C>T	ENST00000519560.1	-	18	2249	c.1829_splice	c.e18-1	p.L610_splice	SLIT3_ENST00000404867.3_Splice_Site_p.L610_splice|SLIT3_ENST00000332966.8_Splice_Site_p.L610_splice	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	610					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)			TCCTCAGCATCCTACAGGGAG	0.522000													18	31					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100417784	100417784	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:100417784G>A	ENST00000358173.3	-	5	1411	c.943C>T	c.(943-945)Ccc>Tcc	p.P315S	EPHB4_ENST00000360620.3_Missense_Mutation_p.P315S|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	315	Cys-rich.				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)					GCACCCCGGGGGTCTGTGCGT	0.637000													36	52					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104046352	104046352	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:104046352G>A	ENST00000388887.2	+	12	1480	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	426	FAS1 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						GCTTTTGGTGGATAATAAAGC	0.343000													19	34					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140855818	140855818	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140855818C>A	ENST00000308177.3	+	1	239	c.135C>A	c.(133-135)ttC>ttA	p.F45L	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_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)			AGAAGGGTTTCGCTGTGGGCA	0.567000													69	100					2.36135e-34	2.40755e-34	1	1	0
OR6S1	341799	broad.mit.edu	37	14	21109333	21109333	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:21109333T>G	ENST00000320704.3	-	1	517	c.518A>C	c.(517-519)cAg>cCg	p.Q173P		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	173					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)		CACAGCACCCTGCTTACAGAA	0.612000													29	38					0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15838877	15838877	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:15838877C>T	ENST00000305899.3	+	1	44	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					ACCACACCTCCATGTCTGAAT	0.562000													64	121					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281650	103281650	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:103281650G>A	ENST00000233969.2	+	3	987	c.845G>A	c.(844-846)gGa>gAa	p.G282E		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	282						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						TTTGTTGTGGGAATCGGTGGG	0.453000													68	96					0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67694231	67694231	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:67694231G>A	ENST00000219251.8	-	1	482	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	ACD_ENST00000393919.4_Missense_Mutation_p.L51F	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	51					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCCGGAGGAGGAGGCCCCGC	0.741000													10	20					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991392	144991392	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:144991392G>A	ENST00000322810.4	-	32	13177	c.13008C>T	c.(13006-13008)tcC>tcT	p.S4336S	PLEC_ENST00000436759.2_Silent_p.S4226S|PLEC_ENST00000357649.2_Silent_p.S4203S|PLEC_ENST00000356346.3_Silent_p.S4185S|PLEC_ENST00000354589.3_Silent_p.S4199S|PLEC_ENST00000345136.3_Silent_p.S4199S|PLEC_ENST00000527096.1_Silent_p.S4222S|PLEC_ENST00000354958.2_Silent_p.S4177S|PLEC_ENST00000398774.2_Silent_p.S4167S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4336	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						ACTGGCGCCCGGAGCGGCGGT	0.632000													28	35					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37627970	37627970	+	Missense_Mutation	SNP	C	C	T	rs146621695		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:37627970C>T	ENST00000447079.4	+	2	1918	c.1885C>T	c.(1885-1887)Cct>Tct	p.P629S	CDK12_ENST00000430627.2_Missense_Mutation_p.P629S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	629					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						AACGTTGCCTCCTTTGCCCCT	0.448000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			76	90					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32783059	32783059	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:32783059C>T	ENST00000265074.8	+	6	1694	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S	NPR3_ENST00000415167.2_Missense_Mutation_p.P451S|NPR3_ENST00000434067.2_Missense_Mutation_p.P235S|NPR3_ENST00000415685.2_Missense_Mutation_p.P235S	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	451					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TGTCAAATATCCTTGGGGCCC	0.368000													6	14					0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6732516	6732516	+	Silent	SNP	G	G	A	rs138508139	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:6732516G>A	ENST00000264080.7	-	11	1004	c.978C>T	c.(976-978)ggC>ggT	p.G326G	GPR108_ENST00000430424.4_Silent_p.G84G	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	326						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TGACGGCAAGGCCTTCGATGG	0.627000													24	34					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57963835	57963835	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:57963835G>A	ENST00000455537.2	+	12	1457	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E306K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	395					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						CGAGCTCTGTGAGGAGACCCC	0.602000													12	18					0	0	1	0	0
CLUH	23277	broad.mit.edu	37	17	2594038	2594038	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:2594038C>T	ENST00000570628.1	-	26	3885	c.3780G>A	c.(3778-3780)gtG>gtA	p.V1260V	CLUH_ENST00000538975.1_Silent_p.V1260V|CLUH_ENST00000575014.1_Silent_p.V1193V|CLUH_ENST00000435359.1_Silent_p.V1260V					clustered mitochondria (cluA/CLU1) homolog																		GCCGCCGCGCCACCTCGGCTT	0.677000													16	16					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8375977	8375977	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:8375977G>A	ENST00000381196.4	-	36	5163	c.4620C>T	c.(4618-4620)acC>acT	p.T1540T	PTPRD_ENST00000397617.3_Silent_p.T1133T|PTPRD_ENST00000358503.5_Silent_p.T1518T|PTPRD_ENST00000540109.1_Silent_p.T1540T|PTPRD_ENST00000360074.4_Silent_p.T1527T|PTPRD_ENST00000486161.1_Silent_p.T1133T|PTPRD_ENST00000537002.1_Silent_p.T1130T|PTPRD_ENST00000356435.5_Silent_p.T1540T|PTPRD_ENST00000355233.5_Silent_p.T1134T|PTPRD_ENST00000397606.3_Silent_p.T1133T|PTPRD_ENST00000397611.3_Silent_p.T1130T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1540	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)		GAGGGTTACAGGTTTTGACTC	0.473000										TSP Lung(15;0.13)			32	4					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179480413	179480413	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179480413C>T	ENST00000589042.1	-	258	48639	c.48415G>A	c.(48415-48417)Gaa>Aaa	p.E16139K	TTN_ENST00000591111.1_Missense_Mutation_p.E14498K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7074K|TTN_ENST00000342175.6_Missense_Mutation_p.E7266K|TTN_ENST00000342992.6_Missense_Mutation_p.E13571K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7199K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14498	Fibronectin type-III 17.						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)			TATGCAGGTTCTCCAGGGCCA	0.368000													63	131					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176002100	176002100	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:176002100G>A	ENST00000510636.1	+	8	785	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	CDHR2_ENST00000506348.1_Missense_Mutation_p.G171R|CDHR2_ENST00000261944.5_Missense_Mutation_p.G171R	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	171	Cadherin 2.				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						CCCTAGCACTGGGGACAGCGA	0.602000													30	37					0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65108013	65108013	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:65108013C>T	ENST00000528416.1	+	2	323	c.190C>T	c.(190-192)Cca>Tca	p.P64S	DPF2_ENST00000532264.1_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.P64S|DPF2_ENST00000415073.2_Missense_Mutation_p.P64S	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	64					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						ACACCGGGGTCCAGGTGAGGG	0.552000													37	38					0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47691438	47691438	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:47691438C>T	ENST00000371883.3	-	2	699	c.123G>A	c.(121-123)acG>acA	p.T41T	TAL1_ENST00000294339.3_Silent_p.T41T|TAL1_ENST00000371884.2_Silent_p.T41T			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	41					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CCGCGCGGCTCGTCTCCTTGG	0.766000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								11	7					0	0	1	0	0
CLEC4C	170482	broad.mit.edu	37	12	7890057	7890057	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:7890057C>T	ENST00000542353.1	-	5	839	c.349G>A	c.(349-351)Gat>Aat	p.D117N	CLEC4C_ENST00000540085.1_Missense_Mutation_p.D86N|CLEC4C_ENST00000360345.3_Missense_Mutation_p.D117N|CLEC4C_ENST00000354629.5_Missense_Mutation_p.D86N	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	117	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)		ACCACCAGATCAGCCCCCATC	0.423000													60	72					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599766	29599766	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:29599766G>A	ENST00000431530.3	+	1	1019	c.961G>A	c.(961-963)Gat>Aat	p.D321N		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	311						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						GGCCAAGCTGGATCTGAAATA	0.512000													23	26					0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32782954	32782954	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:32782954C>T	ENST00000452392.2	-	13	2222	c.2049G>A	c.(2047-2049)ttG>ttA	p.L683L	HLA-DOB_ENST00000438763.2_Silent_p.L76L			Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										CCAGCTTGGTCAATGCCACAA	0.522000													38	87					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118539017	118539017	+	Nonsense_Mutation	SNP	G	G	A	rs77755264		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:118539017G>A	ENST00000336338.5	-	34	5094	c.5029C>T	c.(5029-5031)Caa>Taa	p.Q1677*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1677						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)		ACTGGCTCTTGGAGAACAACA	0.423000													58	47					0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74459210	74459210	+	Missense_Mutation	SNP	G	G	A	rs144927031		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:74459210G>A	ENST00000307439.5	-	4	539	c.245C>T	c.(244-246)tCt>tTt	p.S82F	RASSF6_ENST00000395777.2_Missense_Mutation_p.S82F|RASSF6_ENST00000335049.5_Missense_Mutation_p.S70F|RASSF6_ENST00000342081.3_Missense_Mutation_p.S114F	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	114					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)			ACTAGTAAAAGAAGAGAATGG	0.358000													46	45					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7915874	7915874	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:7915874G>A	ENST00000254854.4	+	10	2213	c.2063G>A	c.(2062-2064)gGg>gAg	p.G688E		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	688	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CACGGCCACGGGAGACTGCTG	0.582000													47	60					0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816268	6816268	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:6816268C>T	ENST00000332601.3	-	1	860	c.672G>A	c.(670-672)gtG>gtA	p.V224V		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGTAATGGCCACATAGGAGG	0.488000													46	112					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377070	77377070	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:77377070G>A	ENST00000451710.3	-	26	4754	c.4517C>T	c.(4516-4518)tCg>tTg	p.S1506L	TRPM6_ENST00000449912.2_Missense_Mutation_p.S1501L|TRPM6_ENST00000376864.4_Missense_Mutation_p.S1506L|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.S1501L|TRPM6_ENST00000360774.1_Missense_Mutation_p.S1506L			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1506					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						ACTCTGGGCCGATCTTGTTGA	0.532000													45	65					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1405280	1405280	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:1405280G>A	ENST00000381312.1	-	3	1345	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	340	DRBM 2.				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)		TCTGGATGTCGAACAGCTCCT	0.746000													6	5					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96021271	96021271	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:96021271C>T	ENST00000297954.4	+	11	2441	c.2441C>T	c.(2440-2442)cCt>cTt	p.P814L	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.P426L|WNK2_ENST00000349097.3_Missense_Mutation_p.P426L|WNK2_ENST00000395477.2_Missense_Mutation_p.P814L|WNK2_ENST00000395475.2_Missense_Mutation_p.P748L			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	814					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						GACGGCCTCCCTCCGGCCCTC	0.657000													19	27					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152518750	152518750	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:152518750C>T	ENST00000427231.2	-	46	6071	c.5869G>A	c.(5869-5871)Gaa>Aaa	p.E1957K	NEB_ENST00000409198.1_Missense_Mutation_p.E1957K|NEB_ENST00000604864.1_Missense_Mutation_p.E1957K|NEB_ENST00000172853.10_Missense_Mutation_p.E1957K|NEB_ENST00000397345.3_Missense_Mutation_p.E1957K|NEB_ENST00000603639.1_Missense_Mutation_p.E1957K	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1957					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)		TACTTCTTTTCACTAATAATC	0.453000													30	42					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73636111	73636111	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:73636111C>T	ENST00000261917.3	-	2	1817	c.824G>A	c.(823-825)gGa>gAa	p.G275E		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	275					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)		AATCAGGTTTCCCACCATCAG	0.502000													24	49					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82816274	82816274	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:82816274G>A	ENST00000265077.3	+	7	2714	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E717K|VCAN_ENST00000512590.2_Missense_Mutation_p.E669K|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	717	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)		GGGAAAAACAGAAGAAGAAGT	0.368000													23	42					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513517	61513517	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:61513517G>A	ENST00000266070.4	-	16	4116	c.3791C>T	c.(3790-3792)cCg>cTg	p.P1264L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1264L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1264	Pro-rich.				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)					AAGAGGGGGCGGAGGCGGCGG	0.642000													60	70					0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115544291	115544291	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:115544291C>T	ENST00000310836.6	+	2	777	c.255C>T	c.(253-255)ttC>ttT	p.F85F	UGT8_ENST00000394511.3_Silent_p.F85F	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	85					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)		CAGATGCTTTCCTACAGTCCA	0.468000													52	79					0	0	1	0	0
CXCL5	6374	broad.mit.edu	37	4	74863996	74863996	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:74863996C>T	ENST00000296027.4	-	2	366	c.169G>A	c.(169-171)Gga>Aga	p.G57R		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	57					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GGATGAACTCCTTGCGTGGTC	0.527000													41	40					0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125152546	125152546	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:125152546G>A	ENST00000362012.2	+	10	1371	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	PTGS1_ENST00000373698.5_Missense_Mutation_p.E347K|PTGS1_ENST00000540753.1_Missense_Mutation_p.E394K|PTGS1_ENST00000223423.4_Missense_Mutation_p.E419K	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	456					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GGAGTCTCGGGAGATGCGGCT	0.577000													17	23					0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110883833	110883833	+	Silent	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:110883833T>A	ENST00000369784.3	+	1	2706	c.1806T>A	c.(1804-1806)gcT>gcA	p.A602A	RBM15_ENST00000487146.2_Silent_p.A602A|RBM15_ENST00000602849.1_Silent_p.A602A	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	602					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)		GGACTGCAGCTACTTCTGTGC	0.577000			T	MKL1	acute megakaryocytic leukemia								45	28					0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169105716	169105716	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:169105716G>A	ENST00000359299.3	+	11	976	c.790G>A	c.(790-792)Ggt>Agt	p.G264S		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	264							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)		TTAGGACTTTGGTTTCCATAA	0.398000													60	78					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36047316	36047316	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:36047316G>A	ENST00000560016.1	-	8	1747	c.1614C>T	c.(1612-1614)caC>caT	p.H538H	HNF1B_ENST00000427275.2_Silent_p.H447H|HNF1B_ENST00000225893.4_3'UTR|HNF1B_ENST00000561193.1_3'UTR			P35680	HNF1B_HUMAN	HNF1 homeobox B	338					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)			TGCCCAGAGGGTGATGGTGTG	0.577000													26	30					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123165338	123165338	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:123165338G>A	ENST00000349780.4	-	34	5232	c.5053C>T	c.(5053-5055)Cct>Tct	p.P1685S	CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.P1644S|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.P1606S|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.P1653S	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1685					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						GAGAGTGGAGGAGTCTCTGAA	0.517000													34	49					0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504439	151504439	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:151504439C>T	ENST00000317605.4	+	1	1363	c.258C>T	c.(256-258)ttC>ttT	p.F86F	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	86					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGGGCGTCTTCAACTTCGTGG	0.602000													41	54					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91861874	91861874	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:91861874C>T	ENST00000370425.3	-	3	258	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	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)	54							ATP binding|ATP-dependent helicase activity|nucleic acid binding			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)		CTTTCTAATTCTTCCTCTAAC	0.333000													9	40					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103322663	103322663	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:103322663C>T	ENST00000424685.2	-	11	1348	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	RELN_ENST00000343529.5_Missense_Mutation_p.E397K|RELN_ENST00000428762.1_Missense_Mutation_p.E397K			P78509	RELN_HUMAN	reelin	397					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)		TCGCTGCCTTCATTTCCATGG	0.458000													43	64					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14364806	14364806	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:14364806C>T	ENST00000344204.4	+	15	2659	c.2635C>T	c.(2635-2637)Cag>Tag	p.Q879*	TRIO_ENST00000537187.1_Nonsense_Mutation_p.Q879*|TRIO_ENST00000509967.2_Nonsense_Mutation_p.Q830*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	879					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AACTCGGGTCCAGGACCTGCT	0.517000											OREG0016458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	53					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100963176	100963176	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:100963176A>G	ENST00000193391.7	-	13	2186	c.1999T>C	c.(1999-2001)Tat>Cat	p.Y667H		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	667					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						TCATGTTCATATTTTGAGTGC	0.428000													44	48					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8530370	8530370	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:8530370A>G	ENST00000348943.3	+	7	716	c.484A>G	c.(484-486)Aga>Gga	p.R162G	HNRNPM_ENST00000325495.4_Missense_Mutation_p.R201G	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	201					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						ACAGGCTGGAAGACTTGGAAG	0.393000													49	81					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91766333	91766333	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:91766333C>T	ENST00000389857.6	-	21	3803	c.3717G>A	c.(3715-3717)caG>caA	p.Q1239Q		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1239					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)				TCCTCTGCTCCTGCTGCAGCG	0.672000													4	0					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206265756	206265756	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:206265756G>A	ENST00000406610.2	+	19	2857	c.2650G>A	c.(2650-2652)Gat>Aat	p.D884N	PARD3B_ENST00000351153.1_Missense_Mutation_p.D815N|PARD3B_ENST00000349953.3_Missense_Mutation_p.D884N|PARD3B_ENST00000358768.2_Missense_Mutation_p.D822N	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	884	Lys-rich.				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)		GAAGAAAGAGGATAAGGGTGG	0.423000													5	6					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005464	30005464	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:30005464C>T	ENST00000279392.3	-	4	1832	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	334					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CTTCCTCGTCCTCGCTGCTTC	0.572000													54	55					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296113	20296113	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20296113G>T	ENST00000568211.1	+	1	506	c.506G>T	c.(505-507)tGt>tTt	p.C169F	OR4N2_ENST00000315947.1_Missense_Mutation_p.C169F			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCCTTTTTGTGGCCCAAAC	0.517000													53	177					1.78197e-24	1.81415e-24	1	1	0
OR1L1	26737	broad.mit.edu	37	9	125424437	125424437	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:125424437C>T	ENST00000373686.1	+	1	593	c.593C>T	c.(592-594)tCc>tTc	p.S198F				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S198F(1)		breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CTGGTTCTCTCCTTCTGCATT	0.463000													146	190					0	0	1	0	0
MEF2B	100271849	broad.mit.edu	37	19	19260221	19260221	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:19260221C>T	ENST00000602424.2	-	5	798	c.72G>A	c.(70-72)cgG>cgA	p.R24R	MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.R41R|MEF2B_ENST00000409224.1_Silent_p.R24R|MEF2B_ENST00000424583.2_Silent_p.R24R|MEF2B_ENST00000410050.1_Silent_p.R24R|MEF2B_ENST00000409447.2_Silent_p.R24R|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.R24R|MEF2B_ENST00000162023.5_Silent_p.R24R	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GCCCGAACTTCCGCTTGGTGA	0.562000													16	45					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120319046	120319046	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:120319046C>A	ENST00000397843.2	+	20	1892	c.1726C>A	c.(1726-1728)Ccc>Acc	p.P576T	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.P557T|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.P473T	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	576					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)		TGGATTTCTTCCCAAAATCAA	0.383000			T	MLL	AML								15	20					1.3612e-06	1.36764e-06	1	1	0
TRPC5	7224	broad.mit.edu	37	X	111019630	111019630	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:111019630C>T	ENST00000262839.2	-	11	3751	c.2833G>A	c.(2833-2835)Gat>Aat	p.D945N		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	945					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCAAATACATCCTCTGAGGAG	0.483000													30	7					0	0	1	0	0
ETNPPL	64850	broad.mit.edu	37	4	109681459	109681459	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:109681459G>A	ENST00000296486.3	-	2	214	c.60C>T	c.(58-60)ccC>ccT	p.P20P	ETNPPL_ENST00000510706.1_5'UTR|ETNPPL_ENST00000512646.1_Intron|ETNPPL_ENST00000411864.2_Silent_p.P20P	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		CTTTGCATGAGGGCCTAGAAA	0.428000													55	51					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921359	24921359	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:24921359G>A	ENST00000329468.2	+	1	819	c.345G>A	c.(343-345)agG>agA	p.R115R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GTTCCGTAAGGATCCCTCCTC	0.652000													29	30					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149754576	149754576	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:149754576C>T	ENST00000451292.1	+	10	1446	c.1338C>T	c.(1336-1338)tcC>tcT	p.S446S	TCOF1_ENST00000323668.7_Silent_p.S369S|TCOF1_ENST00000504761.2_Silent_p.S446S|TCOF1_ENST00000439160.2_Silent_p.S446S|TCOF1_ENST00000394269.3_Silent_p.S446S|TCOF1_ENST00000513346.1_Silent_p.S446S|TCOF1_ENST00000445265.2_Silent_p.S369S|TCOF1_ENST00000377797.3_Silent_p.S446S			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	446					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)			CCAAGGAGTCCCCCAGGAAAG	0.667000													15	30					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57233514	57233514	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:57233514C>T	ENST00000343433.6	-	5	1131	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	351										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						TCAGCAATTTCTTTTGCAGTG	0.373000													27	83					0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48482967	48482967	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:48482967G>A	ENST00000339976.6	-	5	808	c.426C>T	c.(424-426)ttC>ttT	p.F142F	SENP1_ENST00000004980.5_Intron|SENP1_ENST00000448372.1_Intron|SENP1_ENST00000551330.1_Intron|SENP1_ENST00000547886.1_5'UTR|SENP1_ENST00000549518.1_Intron|SENP1_ENST00000549595.1_Intron			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	0	Ser-rich.				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)				TGAAGGAGCTGAATCCTGCCA	0.438000													47	78					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25416217	25416217	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:25416217G>A	ENST00000255324.5	+	19	2573	c.2521G>A	c.(2521-2523)Gat>Aat	p.D841N	RNF17_ENST00000381921.1_Missense_Mutation_p.D841N	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	841					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)		TGAGCTTTTCGATTCTCTTGG	0.348000													39	48					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	154800906	154800906	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:154800906G>A	ENST00000392825.3	+	3	463		c.e3-1			NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							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						TTTTAATGCAGTGGAATGTAT	0.308000													23	19					0	0	1	0	0
TRIM73	375593	broad.mit.edu	37	7	75028289	75028289	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:75028289G>A	ENST00000323819.3	+	2	272	c.72G>A	c.(70-72)aaG>aaA	p.K24K	TRIM73_ENST00000450434.1_Intron|TRIM73_ENST00000463766.1_3'UTR|TRIM73_ENST00000430211.1_Silent_p.K24K|TRIM73_ENST00000437796.1_Silent_p.K24K|TRIM73_ENST00000447409.2_Silent_p.K24K	NM_198924.2	NP_944606.2	Q86UV6	TRI74_HUMAN	tripartite motif containing 73	24						intracellular	zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						AGGTCTTCAAGGAGTCCCTAA	0.617000													4	55					0	0	1	0	0
MEX3D	399664	broad.mit.edu	37	19	1556843	1556843	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:1556843G>A	ENST00000402693.4	-	2	674	c.675C>T	c.(673-675)atC>atT	p.I225I	MEX3D_ENST00000388824.6_Silent_p.I225I	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	225	KH 1.				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GGCCGGTCACGATGAAGACCG	0.657000													9	25					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841889	8841889	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:8841889C>T	ENST00000324060.2	+	1	574	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	167					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						CCTGCATTTTCCCTACTGTGC	0.552000													69	102					0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7359208	7359208	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:7359208C>T	ENST00000306071.2	+	10	1380	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	CHRNB1_ENST00000575379.1_5'UTR|CHRNB1_ENST00000576360.1_Missense_Mutation_p.S317F|CHRNB1_ENST00000536404.2_Missense_Mutation_p.S366F	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	438					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GAGGTCGTCTCCTCTATCAGC	0.607000													24	33					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52658239	52658239	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:52658239G>A	ENST00000322146.8	-	5	3218	c.2697C>T	c.(2695-2697)ttC>ttT	p.F899F	ZNF836_ENST00000597252.1_Silent_p.F899F|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	899					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						AGCGACTAATGAAAGATTTGC	0.383000													25	44					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004713	248004713	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	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													51	129					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3674184	3674184	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:3674184T>G	ENST00000344754.4	-	13	3417	c.3418A>C	c.(3418-3420)Aca>Cca	p.T1140P	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.T1140P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1140	Ig-like C2-type 11.				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						TCCCTGACTGTGACGTTGGGC	0.657000													11	16					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152331356	152331356	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:152331356G>A	ENST00000388718.5	-	2	77	c.5C>T	c.(4-6)aCc>aTc	p.T2I	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2	S-100-like (By similarity).						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)			CAAGAGGTCGGTCATCTTTTT	0.368000													64	40					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113364747	113364747	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:113364747G>A	ENST00000297405.5	-	39	6397	c.6153C>T	c.(6151-6153)tcC>tcT	p.S2051S	CSMD3_ENST00000352409.3_Silent_p.S1981S|CSMD3_ENST00000343508.3_Silent_p.S2011S|CSMD3_ENST00000455883.2_Silent_p.S1947S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2051	Sushi 11.					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						GTTCAGGACAGGAATCCAAAC	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			47	84					0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71740883	71740883	+	Missense_Mutation	SNP	G	G	A	rs146975565		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:71740883G>A	ENST00000269500.5	-	10	1453	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L	FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Missense_Mutation_p.S449L	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	373										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)		TGTGGCAGGCGATCTCAGGCA	0.502000													93	220					0	0	1	0	0
SLC35E3	55508	broad.mit.edu	37	12	69140310	69140310	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:69140310C>T	ENST00000398004.2	+	1	425	c.153C>T	c.(151-153)ttC>ttT	p.F51F		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	51						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			TGGTGCACTTCGTGGTCACCT	0.552000													17	52					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69621293	69621293	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:69621293G>A	ENST00000337103.4	+	8	2565	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	C8orf34_ENST00000325233.3_Missense_Mutation_p.E94K|C8orf34_ENST00000518698.1_Missense_Mutation_p.E436K|C8orf34_ENST00000539993.1_Missense_Mutation_p.E350K			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													11	20					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891794	6891794	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:6891794C>T	ENST00000307322.4	+	1	871	c.809C>T	c.(808-810)cCc>cTc	p.P270L		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTTATGACTCCCATGTTGAAC	0.453000													74	99					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409656	159409656	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:159409656C>T	ENST00000423932.3	+	1	145	c.108C>T	c.(106-108)atC>atT	p.I36I	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	36					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AGCAGCAGATCACCCTTTTTG	0.413000													70	205					0	0	1	0	0
LEPREL4	10609	broad.mit.edu	37	17	39967278	39967278	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:39967278G>A	ENST00000355468.3	-	4	1090	c.624C>T	c.(622-624)ttC>ttT	p.F208F	LEPREL4_ENST00000393928.1_Silent_p.F208F			Q92791	SC65_HUMAN	leprecan-like 4	208					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CAGCCCGGAGGAACACGGCCT	0.647000													35	43					0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524591	10524591	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:10524591G>A	ENST00000396560.2	+	3	341	c.114G>A	c.(112-114)ctG>ctA	p.L38L	ATF7IP2_ENST00000396559.1_Silent_p.L38L|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000324570.5_Silent_p.L38L|ATF7IP2_ENST00000356427.2_Silent_p.L38L	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TTGAAGCGCTGAAAACAGCAA	0.403000													39	36					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161166320	161166320	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:161166320G>A	ENST00000367995.3	-	2	1409	c.984C>T	c.(982-984)gcC>gcT	p.A328A	ADAMTS4_ENST00000367996.4_Intron			O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	0	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			tgcagtgcatggcctgcGGTG	0.567000													74	40					0	0	1	0	0
A4GALT	53947	broad.mit.edu	37	22	43089704	43089704	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:43089704G>A	ENST00000401850.1	-	2	743	c.254C>T	c.(253-255)tCa>tTa	p.S85L	A4GALT_ENST00000381278.3_Missense_Mutation_p.S85L|A4GALT_ENST00000249005.2_Missense_Mutation_p.S85L			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	85					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						GGTCCGGTCTGAAGTCTCCAG	0.617000													42	18					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52851606	52851606	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:52851606G>A	ENST00000371568.3	-	9	1617	c.1399C>T	c.(1399-1401)Cca>Tca	p.P467S	ORC1_ENST00000371566.1_Missense_Mutation_p.P467S	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	467					cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCACAACGTGGCGTTCTAGGC	0.507000													27	10					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995945	140995945	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:140995945C>T	ENST00000285879.4	+	4	3041	c.2755C>T	c.(2755-2757)Ctt>Ttt	p.L919F	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	919	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)					GGCGCGGTTTCTTCTCCTCAA	0.483000										HNSCC(15;0.026)			126	24					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13780963	13780963	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:13780963C>A	ENST00000265104.4	-	53	9030	c.8926G>T	c.(8926-8928)Gtt>Ttt	p.V2976F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2976	AAA 4 (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)					TGGAAGGAAACGTAGCCAGCA	0.488000									Kartagener syndrome				20	30					2.39187e-15	2.42613e-15	1	1	0
KDR	3791	broad.mit.edu	37	4	55962427	55962427	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:55962427G>A	ENST00000263923.4	-	19	2992	c.2697C>T	c.(2695-2697)gtC>gtT	p.V899V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	899	Protein kinase.				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)	CTAGAAGGTTGACCACATTGA	0.453000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			27	40					0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108568044	108568044	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:108568044G>A	ENST00000295756.6	+	5	476	c.246G>A	c.(244-246)atG>atA	p.M82I	TRAT1_ENST00000426646.1_Missense_Mutation_p.M45I	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	82	Interaction with PIK3R1.				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ATGAACAAATGAAAGCCCGAC	0.343000													22	34					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16872934	16872934	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:16872934G>A	ENST00000524140.2	+	8	2536	c.2118G>A	c.(2116-2118)ctG>ctA	p.L706L	NWD1_ENST00000379808.3_Silent_p.L706L|NWD1_ENST00000339803.6_Silent_p.L571L|NWD1_ENST00000552788.1_Silent_p.L706L|NWD1_ENST00000549814.1_Silent_p.L706L|NWD1_ENST00000523826.1_Silent_p.L500L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	706							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						GGAAACCACTGAACTTGGACC	0.582000													13	24					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113572	55113572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:55113572G>A	ENST00000370862.3	+	2	695	c.359G>A	c.(358-360)tGg>tAg	p.W120*		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	120					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)			ACTGAGACCTGGTTTTTTGGA	0.423000													88	218					0	0	1	0	0
GATA5	140628	broad.mit.edu	37	20	61040517	61040517	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:61040517G>A	ENST00000252997.2	-	6	978	c.917C>T	c.(916-918)tCc>tTc	p.S306F		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	306					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			ATTCCTTGTGGATCCTGGAAG	0.637000													11	17					0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125563331	125563331	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:125563331G>A	ENST00000277309.2	+	1	962	c.930G>A	c.(928-930)agG>agA	p.R310R		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TTGGGCGAAGGATCTCAGCTA	0.562000													25	36					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227506	38227506	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:38227506G>A	ENST00000373048.4	-	3	420	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	EPHA10_ENST00000319637.6_Missense_Mutation_p.R141C|EPHA10_ENST00000427468.2_Missense_Mutation_p.R141C	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	141						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)				AGGCGGGGACGCCCACGGCCC	0.657000													37	78					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98797649	98797649	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:98797649G>A	ENST00000477737.1	+	9	1489	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	VWA3B_ENST00000435344.1_Missense_Mutation_p.E429K|VWA3B_ENST00000451075.2_Missense_Mutation_p.E279K	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	429										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						AGCCAAACCGGAGAATGAGTC	0.577000													43	48					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228892229	228892229	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:228892229C>T	ENST00000392056.3	-	4	323	c.277G>A	c.(277-279)Gat>Aat	p.D93N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D93N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	93						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)		CTGCATTCATCCTTGTTCACA	0.393000													43	37					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52132740	52132740	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:52132740C>T	ENST00000222107.4	-	3	709	c.571G>A	c.(571-573)Gag>Aag	p.E191K	SIGLEC5_ENST00000599649.1_Missense_Mutation_p.E191K|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.E191K|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.E191K|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.E191K			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	191	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding	p.E191*(1)		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)		CGGGTGGTCTCGGGGTCCAGG	0.652000													6	15					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1256389	1256389	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:1256389A>G	ENST00000447027.1	+	22	2772	c.2714A>G	c.(2713-2715)cAc>cGc	p.H905R	MUC5B_ENST00000529681.1_Missense_Mutation_p.H902R			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	902	VWFC 1.|VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGGATGGCCACTTCATCACC	0.662000													20	33					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23721859	23721859	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:23721859C>T	ENST00000256797.4	-	3	523	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	ERN2_ENST00000457008.2_Missense_Mutation_p.E71K	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	71					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)		ATTGGTCCTTCGATGACGGGA	0.502000													90	126					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43711285	43711285	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:43711285G>A	ENST00000398437.1	+	13	2099	c.1951G>A	c.(1951-1953)Gca>Aca	p.A651T	ABCG1_ENST00000347800.2_Missense_Mutation_p.A490T|ABCG1_ENST00000398449.3_Missense_Mutation_p.A493T|ABCG1_ENST00000340588.4_Missense_Mutation_p.A613T|ABCG1_ENST00000398457.2_Missense_Mutation_p.A495T|ABCG1_ENST00000361802.2_Missense_Mutation_p.A505T|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.A504T			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	505	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)	CAAGACCATGGCAGACGTGCC	0.527000													6	29					0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73832457	73832457	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:73832457G>A	ENST00000207549.4	-	15	1731	c.1352C>T	c.(1351-1353)aCc>aTc	p.T451I	UNC13D_ENST00000412096.2_Missense_Mutation_p.T451I	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	451	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAATGGGGCGGTGTTGGGGCA	0.622000									Familial Hemophagocytic Lymphohistiocytosis				12	21					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179547541	179547541	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179547541C>T	ENST00000589042.1	-	135	33201	c.32977G>A	c.(32977-32979)Gaa>Aaa	p.E10993K	TTN_ENST00000591111.1_Missense_Mutation_p.E10676K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9749K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10676	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)			TCATATTCTTCATATTCCTCA	0.353000													33	49					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521174	39521174	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:39521174G>A	ENST00000251646.3	-	6	1003	c.954C>T	c.(952-954)atC>atT	p.I318I		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	318	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)				CCACGTTGGTGATCAGGCTCT	0.617000													32	46					0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978191	10978191	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:10978191C>T	ENST00000240619.2	-	1	766	c.678G>A	c.(676-678)atG>atA	p.M226I		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	226					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						TCAAAACTTTCATTGCCTTCA	0.368000													44	63					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15646290	15646290	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:15646290C>A	ENST00000378076.3	-	20	2388	c.2035G>T	c.(2035-2037)Gaa>Taa	p.E679*		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	679					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						CCTTCCCCTTCATTTCTTGCA	0.368000													28	46					2.44723e-14	2.48046e-14	1	1	0
ARHGAP36	158763	broad.mit.edu	37	X	130218329	130218329	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:130218329G>A	ENST00000276211.5	+	5	1041	c.696G>A	c.(694-696)gcG>gcA	p.A232A	ARHGAP36_ENST00000370921.1_Silent_p.A96A|ARHGAP36_ENST00000370922.1_Silent_p.A220A	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	232	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ATCCGATTGCGAAACAAATCC	0.468000													26	1					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58292111	58292111	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:58292111G>A	ENST00000300896.4	-	17	2086	c.1892C>T	c.(1891-1893)cCt>cTt	p.P631L	USP32_ENST00000592339.1_Missense_Mutation_p.P301L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	631					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)			CCGCTTTAAAGGTGCATTCGG	0.418000													9	66					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119168174	119168174	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:119168174C>T	ENST00000264033.4	+	14	2610	c.2234C>T	c.(2233-2235)aCc>aTc	p.T745I		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	745	Asp/Glu-rich (acidic).|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)		CCATCTATCACCGAGAGCAGC	0.408000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				17	39					0	0	1	0	0
PRKAG2	51422	broad.mit.edu	37	7	151265922	151265922	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:151265922G>A	ENST00000287878.4	-	11	1617	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	PRKAG2_ENST00000433631.2_Silent_p.F246F|PRKAG2_ENST00000418337.2_Silent_p.F130F|PRKAG2_ENST00000392801.2_Silent_p.F327F|PRKAG2_ENST00000492843.1_Silent_p.F247F	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	371	CBS 2.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		ATACAGCATCGAAGAGGCTGT	0.403000													30	43					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47512182	47512182	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:47512182G>A	ENST00000371901.3	+	9	1367	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	CYP4X1_ENST00000538609.1_Missense_Mutation_p.E372K	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	373						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						GTGCATCAAGGAGACGTGCCG	0.493000													53	45					0	0	1	0	0
TREM2	54209	broad.mit.edu	37	6	41126774	41126774	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:41126774T>C	ENST00000373122.4	-	4	573	c.553A>G	c.(553-555)Acc>Gcc	p.T185A	TREM2_ENST00000373113.3_Silent_p.P171P|TREM2_ENST00000338469.3_Intron			Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	0					axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGAAGTGGGTGGGAAGGGGA	0.547000													11	30					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58919354	58919354	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:58919354C>T	ENST00000528737.1	+	5	3031	c.213C>T	c.(211-213)acC>acT	p.T71T	FAM111A_ENST00000531147.1_Silent_p.T71T|FAM111A_ENST00000533703.1_Silent_p.T71T|FAM111A_ENST00000420244.1_Silent_p.T71T|FAM111A_ENST00000361723.3_Silent_p.T71T			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	71					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AAGACCAGACCATGCCCCAAA	0.408000													16	124					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39357241	39357241	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:39357241C>T	ENST00000280481.7	+	5	5892	c.5676C>T	c.(5674-5676)tcC>tcT	p.S1892S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1892	Calx-beta 2.				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)		CCAAATACTCCGTTGAAGAAG	0.443000													53	91					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764655	82764655	+	Silent	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:82764655T>C	ENST00000423517.2	-	3	2548	c.2211A>G	c.(2209-2211)gaA>gaG	p.E737E	PCLO_ENST00000333891.8_Silent_p.E737E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	683	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						GGACAGAAGGTTCTTTGGGAG	0.522000													22	27					0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53741415	53741415	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:53741415G>A	ENST00000306052.6	-	6	995	c.894C>T	c.(892-894)acC>acT	p.T298T	LRP8_ENST00000354412.3_Silent_p.T169T|LRP8_ENST00000347547.2_Intron|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Silent_p.T298T	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	298	LDL-receptor class A 7.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CCCCACGGCAGGTGCCCAGTG	0.592000													15	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458716	179458716	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179458716C>T	ENST00000589042.1	-	297	58628	c.58404G>A	c.(58402-58404)agG>agA	p.R19468R	TTN_ENST00000591111.1_Silent_p.R17827R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.R10403R|TTN_ENST00000342175.6_Silent_p.R10595R|TTN_ENST00000342992.6_Silent_p.R16900R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.R10528R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17827	Fibronectin type-III 41.						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)			AGAAACCTTTCCTAGAGCCTG	0.388000													61	97					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137620555	137620555	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:137620555G>A	ENST00000371817.3	+	6	1240	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	276	Nonhelical 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	p.E276K(1)		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)		CTATTACTACGAATACCCCTA	0.607000													73	98					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24791866	24791866	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:24791866G>A	ENST00000310677.4	-	20	2504	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	ADCY4_ENST00000554068.2_Silent_p.F797F|ADCY4_ENST00000418030.2_Silent_p.F797F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	797					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)		AGAAGAAGATGAAGAAGGAGA	0.587000													12	24					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804879	22804879	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:22804879C>T	ENST00000361524.3	-	4	3151	c.3003G>A	c.(3001-3003)gaG>gaA	p.E1001E	ZNF521_ENST00000538137.2_Silent_p.E1001E|ZNF521_ENST00000584787.1_Silent_p.E781E	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1001					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)					CTAAAAACTCCTCTTCACTCT	0.483000			T	PAX5	ALL								62	44					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626644	140626644	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140626644C>T	ENST00000231173.3	+	1	1498	c.1498C>T	c.(1498-1500)Ctc>Ttc	p.L500F		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		500	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACCTGCCCCTCACCTCCCT	0.672000													91	106					0	0	1	0	0
TBC1D3B	414059	broad.mit.edu	37	17	34499227	34499227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:34499227G>A	ENST00000454519.3	-	7	633	c.484C>T	c.(484-486)Cga>Tga	p.R162*	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Nonsense_Mutation_p.R162*	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	162	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTCCGTATCGATCCCTGAAG	0.562000													100	499					0	0	1	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93390459	93390459	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:93390459G>A	ENST00000238994.5	-	2	263	c.179C>T	c.(178-180)tCa>tTa	p.S60L		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	60							protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				ATTGAGACATGATTTCAGGGG	0.453000													92	130					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924510	45924510	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:45924510C>T	ENST00000395629.2	+	5	1492	c.1162C>T	c.(1162-1164)Ccg>Tcg	p.P388S	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.P398S			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	398					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)		GAGCCTGCGGCCGTGCTTCGG	0.592000													11	14					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10506464	10506464	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:10506464C>T	ENST00000444303.2	+	4	682	c.210C>T	c.(208-210)ctC>ctT	p.L70L	AMPD3_ENST00000396554.3_Silent_p.L238L	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	229					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)		GGGGCATCCTCTTTGTGTATG	0.587000													35	41					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28736037	28736037	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:28736037G>A	ENST00000257197.3	-	4	701	c.440C>T	c.(439-441)tCg>tTg	p.S147L	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.S147L	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	147	Cadherin 1.				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)			TGGACCCAACGAGTTCTCCAT	0.393000													75	46					0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110086255	110086255	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:110086255C>T	ENST00000230124.3	+	14	1598	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C	FIG4_ENST00000441478.2_Missense_Mutation_p.R215C	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	492	SAC.				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)		CTGTTTAGATCGCACCAACAC	0.403000													37	59					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16504428	16504428	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:16504428G>A	ENST00000304523.5	-	8	1283	c.960C>T	c.(958-960)atC>atT	p.I320I	LDB2_ENST00000515064.1_Silent_p.I318I|LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000503178.2_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000502640.1_3'UTR	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	320	LIM-binding domain (LID) (By similarity).						LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CTAATCTAGTGATTAGCCTTT	0.517000													77	112					0	0	1	0	0
EFCC1	79825	broad.mit.edu	37	3	128755913	128755913	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:128755913G>A	ENST00000436022.2	+	6	1543	c.232G>A	c.(232-234)Gag>Aag	p.E78K	EFCC1_ENST00000480450.1_Missense_Mutation_p.E515K	NM_024768.2	NP_079044.2			EF-hand and coiled-coil domain containing 1																		CCTGCTGGAGGAGAAGCTGGT	0.617000													9	21					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074898	9074898	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9074898G>A	ENST00000397910.4	-	3	12751	c.12548C>T	c.(12547-12549)cCc>cTc	p.P4183L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4185	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						AGTAGAGGAGGGACTGTGCCC	0.517000													36	50					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43816018	43816018	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:43816018C>T	ENST00000382031.1	+	5	3092	c.3061C>T	c.(3061-3063)Cca>Tca	p.P1021S	MAP1A_ENST00000300231.5_Missense_Mutation_p.P783S|MAP1A_ENST00000399453.1_Missense_Mutation_p.P783S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	783						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)	AGGTGCTGGCCCATTCGAAGC	0.547000													18	26					0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72363833	72363833	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:72363833G>A	ENST00000335666.4	+	1	237	c.189G>A	c.(187-189)ggG>ggA	p.G63G		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	63						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						AGGTCACAGGGGGAAGCTGGG	0.547000													16	33					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152580830	152580830	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:152580830G>A	ENST00000427231.2	-	8	758	c.556C>T	c.(556-558)Cct>Tct	p.P186S	NEB_ENST00000409198.1_Missense_Mutation_p.P186S|NEB_ENST00000604864.1_Missense_Mutation_p.P186S|NEB_ENST00000172853.10_Missense_Mutation_p.P186S|NEB_ENST00000397345.3_Missense_Mutation_p.P186S|NEB_ENST00000603639.1_Missense_Mutation_p.P186S	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	186					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)		GCATCAGGAGGAAGCAGGTAC	0.507000													7	19					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749125	22749125	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:22749125G>A	ENST00000511446.1	+	0	496				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	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			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CACCATAAATGAAGCTAATGT	0.423000													46	69					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5290854	5290854	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5290854G>A	ENST00000380237.1	-	4	489	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Silent_p.L49L|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	49					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGACGACAGGTTTCCAAAG	0.453000													35	57					0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7329988	7329988	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:7329988G>A	ENST00000574034.1	+	3	388	c.340G>A	c.(340-342)Ggc>Agc	p.G114S	C17orf74_ENST00000333870.3_Silent_p.L226L|RP11-104H15.7_ENST00000575310.1_RNA			Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	0						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GTGGTATCCTGGCCAGTCTGC	0.642000													30	35					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405587	68405587	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:68405587C>T	ENST00000219334.5	-	3	1101	c.498G>A	c.(496-498)caG>caA	p.Q166Q	SMPD3_ENST00000563226.1_Silent_p.Q166Q|SMPD3_ENST00000568373.1_Silent_p.Q166Q	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	166					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)	AAATTTTGATCTGGGGCCGGG	0.632000													7	12					0	0	1	0	0
KLHL40	131377	broad.mit.edu	37	3	42730445	42730445	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:42730445C>T	ENST00000287777.4	+	4	1606	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L		NM_152393.2	NP_689606.2			kelch-like family member 40																		CCCGCTCACTCTTTGGGGCCA	0.577000													24	35					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47775939	47775939	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:47775939C>T	ENST00000376954.1	+	6	2262	c.1894C>T	c.(1894-1896)Cat>Tat	p.H632Y	ZNF81_ENST00000338637.7_Missense_Mutation_p.H632Y			P51508	ZNF81_HUMAN	zinc finger protein 81	632						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCAGACAATTCATACTGGAGA	0.388000													14	1					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33288355	33288355	+	Silent	SNP	T	T	A	rs150783256		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:33288355T>A	ENST00000374542.5	-	4	1257	c.1053A>T	c.(1051-1053)gcA>gcT	p.A351A	DAXX_ENST00000266000.6_Silent_p.A351A|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Silent_p.A276A	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	351	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						GATCTGATAGTGCAGGGTCAA	0.517000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								30	73					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888670	38888670	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:38888670C>T	ENST00000450244.1	-	26	5089	c.4891G>A	c.(4891-4893)Gaa>Aaa	p.E1631K	SCN11A_ENST00000456224.3_Missense_Mutation_p.E1593K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E1631K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1631					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1631K(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)	TCAAACTTTTCCCACACTTCA	0.408000													61	88					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140178575	140178575	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:140178575G>A	ENST00000458420.3	+	7	1376	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	396					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						TGTGAGAGCCGAGAAGGAAAC	0.577000										HNSCC(16;0.037)			26	47					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798780	55798780	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:55798780G>A	ENST00000313555.1	+	1	886	c.886G>A	c.(886-888)Gat>Aat	p.D296N		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CAGAAACAAGGATGTGAAAAA	0.323000													34	42					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179425838	179425838	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179425838C>T	ENST00000589042.1	-	326	85245	c.85021G>A	c.(85021-85023)Gaa>Aaa	p.E28341K	TTN_ENST00000591111.1_Missense_Mutation_p.E26700K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19276K|TTN_ENST00000342175.6_Missense_Mutation_p.E19468K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E25773K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19401K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26700	Fibronectin type-III 106.						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)			CCAGTGGATTCAGATGGCTCA	0.413000													53	79					0	0	1	0	0
TAC3	6866	broad.mit.edu	37	12	57407165	57407165	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:57407165C>T	ENST00000458521.2	-	4	375	c.216G>A	c.(214-216)aaG>aaA	p.K72K	TAC3_ENST00000415231.1_Silent_p.K72K|TAC3_ENST00000441881.1_Silent_p.K72K	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	72					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						ATGTTGATTCCTTAGGATCTG	0.507000													30	30					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551740	1551740	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:1551740C>T	ENST00000381605.4	-	4	859	c.795G>A	c.(793-795)gaG>gaA	p.E265E	SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	265	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TTGCCTGGTTCTCTGCCCTCA	0.547000													21	39					0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9067391	9067391	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:9067391G>A	ENST00000400906.1	-	10	1169	c.1170C>T	c.(1168-1170)atC>atT	p.I390I		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	390						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	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;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AATGTCCCGCGATGTAGGCAA	0.637000													18	9					0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53265527	53265527	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:53265527G>A	ENST00000396435.3	-	13	3628	c.3428C>T	c.(3427-3429)tCc>tTc	p.S1143F	IQSEC2_ENST00000375365.2_Missense_Mutation_p.S938F|IQSEC2_ENST00000375368.5_Missense_Mutation_p.S1133F	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1133					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GTCTCGCAGGGAACTGCTGAG	0.662000													6	0					0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145522608	145522608	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:145522608G>A	ENST00000394434.2	-	20	2083	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F	LARS_ENST00000274562.9_Silent_p.F612F|LARS_ENST00000545646.1_Silent_p.F593F|LARS_ENST00000510191.1_Silent_p.F585F	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	639					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCTCCTTGAAGAAAACATAAT	0.328000													26	42					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138708465	138708465	+	Splice_Site	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:138708465A>G	ENST00000520602.1	-	9	1039	c.752_splice	c.e9-1	p.L252_splice	MCF2_ENST00000519895.1_Splice_Site_p.L252_splice|MCF2_ENST00000370573.4_Splice_Site_p.L192_splice|MCF2_ENST00000370578.4_Splice_Site_p.L337_splice|MCF2_ENST00000414978.1_Splice_Site_p.L252_splice|MCF2_ENST00000536274.1_Splice_Site_p.L153_splice|MCF2_ENST00000370576.4_Splice_Site_p.L192_splice|MCF2_ENST00000338585.6_Splice_Site_p.L192_splice			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	192					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)					TGAGTCAGCAACCTTAAGAAA	0.338000													29	7					0	0	1	0	0
MPP4	58538	broad.mit.edu	37	2	202550653	202550653	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:202550653G>T	ENST00000409474.3	-	6	688	c.481C>A	c.(481-483)Caa>Aaa	p.Q161K	MPP4_ENST00000409143.1_Missense_Mutation_p.Q134K|MPP4_ENST00000315506.7_Missense_Mutation_p.Q161K|MPP4_ENST00000359962.5_Missense_Mutation_p.Q161K|MPP4_ENST00000428900.2_Missense_Mutation_p.Q161K|MPP4_ENST00000396886.3_Intron|MPP4_ENST00000447335.2_Missense_Mutation_p.Q161K	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	161	PDZ.					cytoplasm	protein binding			kidney(1)|lung(11)	12						AGGGGCTGTTGGTTTTTCACT	0.408000													33	64					8.16721e-17	8.29942e-17	1	1	0
BMP5	653	broad.mit.edu	37	6	55638882	55638882	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:55638882G>A	ENST00000370830.3	-	4	1690	c.992C>T	c.(991-993)tCt>tTt	p.S331F	BMP5_ENST00000446683.2_Missense_Mutation_p.S331F	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	331					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			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)			GTCCTGATGAGAGCTGGATTT	0.468000													41	119					0	0	1	0	0
LINC00359	100887754	broad.mit.edu	37	13	97600357	97600357	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:97600357C>T	ENST00000442322.1	-	0	160																											TGATTTTCTTCTTTTTCCAAG	0.408000													5	10					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2965247	2965247	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:2965247G>A	ENST00000602557.1	-	46	7386	c.6831C>T	c.(6829-6831)ttC>ttT	p.F2277F	CSMD1_ENST00000602723.1_Silent_p.F2277F|CSMD1_ENST00000542608.1_Silent_p.F2276F|CSMD1_ENST00000537824.1_Silent_p.F2276F|CSMD1_ENST00000400186.3_Silent_p.F2277F|CSMD1_ENST00000520002.1_Silent_p.F2277F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2277	Sushi 13.					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)		TACCTATTTCGAAATCATCAT	0.358000													13	39					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43322722	43322722	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:43322722G>A	ENST00000361428.2	-	4	2427	c.2350C>T	c.(2350-2352)Ccc>Tcc	p.P784S	ZNF318_ENST00000318149.3_Missense_Mutation_p.P784S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	784					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GAGGCAGGGGGAATGGCAGGT	0.532000													43	87					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17701943	17701943	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:17701943C>T	ENST00000434762.2	+	0	366							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		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;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATACTATGGGCCCAACGAGGA	0.622000													8	0					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75013768	75013768	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:75013768G>A	ENST00000379727.3	-	4	1227	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	CYP1A1_ENST00000395049.4_Silent_p.I343I|CYP1A1_ENST00000395048.2_Silent_p.I343I|CYP1A1_ENST00000567032.1_Silent_p.I343I|CYP1A1_ENST00000564596.1_Silent_p.I82I			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	343					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)	GCTCCTCTTGGATCTTTCTCT	0.537000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				30	48					0	0	1	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42975938	42975938	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:42975938G>A	ENST00000485511.1	+	8	1036		c.e8-1		PPP2R5D_ENST00000472118.1_Splice_Site|PPP2R5D_ENST00000461010.1_Splice_Site|PPP2R5D_ENST00000394110.3_Splice_Site	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta						nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCTTCCCTCAGGTTCATCTAC	0.572000													53	172					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98187151	98187151	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:98187151G>A	ENST00000370192.3	-	5	498	c.398C>T	c.(397-399)tCt>tTt	p.S133F	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000306031.5_Missense_Mutation_p.S133F|DPYD_ENST00000423006.2_Missense_Mutation_p.S96F	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	133					'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)	ACAAAGATCAGAGGTTGGACA	0.373000													46	128					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179468656	179468656	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179468656C>T	ENST00000589042.1	-	282	54982	c.54758G>A	c.(54757-54759)gGa>gAa	p.G18253E	TTN_ENST00000591111.1_Missense_Mutation_p.G16612E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9188E|TTN_ENST00000342175.6_Missense_Mutation_p.G9380E|TTN_ENST00000342992.6_Missense_Mutation_p.G15685E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9313E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16612	Fibronectin type-III 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)			AGGACCAATTCCTGCAGCATT	0.443000													81	88					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104066992	104066992	+	Silent	SNP	T	T	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:104066992T>G	ENST00000265148.3	-	30	4496	c.4407A>C	c.(4405-4407)gtA>gtC	p.V1469V	CENPE_ENST00000380026.3_Silent_p.V1444V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1469					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)		CTACTTTAGCTACAATTTCTT	0.308000													38	52					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238277457	238277457	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:238277457C>T	ENST00000295550.4	-	10	5101	c.4649G>A	c.(4648-4650)gGa>gAa	p.G1550E	COL6A3_ENST00000347401.3_Missense_Mutation_p.G1349E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1350E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G943E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1344E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1344E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1550	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.G1550E(1)		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)		CTGGGATTTTCCACCCAGGAC	0.562000													49	85					0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551335	100551335	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:100551335C>T	ENST00000397112.4	-	0	1863					NR_036632.1															large_intestine(1)|lung(3)	4						CCCTGCAGGGCCTGGTGGGTC	0.627000													28	43					0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38183281	38183281	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:38183281G>A	ENST00000394126.1	-	16	2030	c.1612C>T	c.(1612-1614)Ctg>Ttg	p.L538L	MED24_ENST00000501516.3_Silent_p.L532L|MED24_ENST00000394127.2_Silent_p.L500L|MED24_ENST00000394128.2_Silent_p.L513L|MED24_ENST00000356271.3_Silent_p.L500L			O75448	MED24_HUMAN	mediator complex subunit 24	513					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|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			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GACTCGGACAGAATCACCTGG	0.667000											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	11					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153656262	153656262	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:153656262C>T	ENST00000368680.3	+	7	1918	c.1446C>T	c.(1444-1446)tcC>tcT	p.S482S		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	482					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)	GCAGCCTCTCCTTGCTCGGCA	0.547000													9	108					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107866	55107866	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:55107866C>T	ENST00000251372.3	+	7	1353	c.1171C>T	c.(1171-1173)Cac>Tac	p.H391Y	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	391	Ig-like C2-type 4.				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)		GACCTCAGCCCACTCGGGGAC	0.592000													78	87					0	0	1	0	0
RSU1P2	100133308	broad.mit.edu	37	10	45602488	45602488	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:45602488G>A	ENST00000423875.1	-	0	948																											CTGGTGGCAGGATTTCAAAAC	0.413000													18	19					0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39506834	39506834	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:39506834G>A	ENST00000007735.3	-	1	230	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	62	Coil 1A.|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)				GGTCGTTCAGGAACTGCATGG	0.627000													35	79					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018287	161018287	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:161018287C>T	ENST00000368013.3	-	12	2844	c.2524G>A	c.(2524-2526)Gat>Aat	p.D842N	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.D665N|ARHGAP30_ENST00000368016.3_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	842	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCCTCTCCATCCCCACTCTCC	0.557000													62	131					0	0	1	0	0
CREB3L1	90993	broad.mit.edu	37	11	46334010	46334010	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:46334010G>A	ENST00000529193.1	+	6	1339	c.888G>A	c.(886-888)agG>agA	p.R296R	CREB3L1_ENST00000288400.3_Silent_p.R296R			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	296					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		GAGTCCGGAGGAAAATCAAGA	0.592000			T	FUS	myxofibrosarcoma								12	19					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57258380	57258380	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:57258380G>C	ENST00000343433.6	-	2	186	c.106C>G	c.(106-108)Cca>Gca	p.P36A	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	36										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						TCACCCTTTGGAGAAACACCT	0.463000													174	106					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892867	166892867	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:166892867C>G	ENST00000423058.2	-	16	3137	c.3120G>C	c.(3118-3120)agG>agC	p.R1040S	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R1012S|SCN1A_ENST00000375405.3_Missense_Mutation_p.R1029S|SCN1A_ENST00000303395.4_Missense_Mutation_p.R1040S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1040						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)	TCTTTTGTTTCCTAATGAAGG	0.313000													17	25					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66197696	66197696	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:66197696G>A	ENST00000273854.3	-	17	3603	c.3003C>T	c.(3001-3003)acC>acT	p.T1001T	EPHA5_ENST00000511294.1_Silent_p.T1002T|EPHA5_ENST00000354839.4_Silent_p.T979T|EPHA5_ENST00000432638.2_Silent_p.T838T	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	1001	SAM.				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						CTCACTCCAAGGTCACCTGAG	0.403000										TSP Lung(17;0.13)			29	50					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69109500	69109500	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:69109500C>T	ENST00000229179.4	+	12	1395	c.1063C>T	c.(1063-1065)Cgt>Tgt	p.R355C	NUP107_ENST00000378905.2_Missense_Mutation_p.R204C|NUP107_ENST00000539906.1_Missense_Mutation_p.R326C	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	355					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)			TACTCTAATCCGTGCTGGAAT	0.398000													41	52					0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809569	5809569	+	Missense_Mutation	SNP	G	G	A	rs149811568		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5809569G>A	ENST00000317078.1	-	1	477	c.478C>T	c.(478-480)Cct>Tct	p.P160S	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P160S(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)		AAAGTGGAAGGGATAACAAGC	0.498000													28	40					0	0	1	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214555	11214555	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:11214555G>A	ENST00000533467.1	-	1	338	c.339C>T	c.(337-339)ttC>ttT	p.F113F	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	113					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TAAGGTTGGAGAAATTGGCAA	0.373000													67	93					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113764255	113764255	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:113764255G>A	ENST00000259211.6	+	3	616	c.205G>A	c.(205-207)Gga>Aga	p.G69R		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	69					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GGGCCTGAATGGACTCAATCT	0.502000													91	129					0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38288302	38288302	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:38288302G>A	ENST00000373036.4	-	9	1398	c.1258C>T	c.(1258-1260)Cca>Tca	p.P420S		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	420	Pro-rich.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGTACAAGTGGAAGAGATAAA	0.537000													21	62					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390293	158390293	+	Missense_Mutation	SNP	G	G	A	rs111878656	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158390293G>A	ENST00000314902.2	-	1	363	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	122					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)					GCTATGTAACGATCATAACCC	0.512000													63	129					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64984769	64984769	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:64984769C>T	ENST00000394156.3	-	12	2248	c.1795G>A	c.(1795-1797)Ggg>Agg	p.G599R	CDH11_ENST00000268603.4_Missense_Mutation_p.G599R|CDH11_ENST00000566827.1_Missense_Mutation_p.G473R			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	599	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.G599R(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)		AGCAGTGCCCCGTTCACGTCG	0.612000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			26	32					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186062681	186062681	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:186062681C>T	ENST00000271588.4	+	66	10305	c.10076C>T	c.(10075-10077)tCa>tTa	p.S3359L	HMCN1_ENST00000367492.2_Missense_Mutation_p.S3359L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3359	Ig-like C2-type 32.				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						GTGGATACTTCAATAAATATT	0.443000													67	59					0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14307246	14307246	+	Missense_Mutation	SNP	G	G	A	rs150799973		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:14307246G>A	ENST00000378053.3	-	2	1163	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.R303C	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	303					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.R303C(1)		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)		GGATTGTTGCGAAGAATCAGT	0.438000													43	52					0	0	1	0	0
TMEM82	388595	broad.mit.edu	37	1	16074047	16074047	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:16074047C>T	ENST00000375782.1	+	6	1090	c.952C>T	c.(952-954)Cca>Tca	p.P318S	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	318						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		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;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGGATTTTCCATCCCAGAG	0.637000													40	11					0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67790898	67790898	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:67790898C>T	ENST00000422365.2	+	6	742	c.571C>T	c.(571-573)Ctt>Ttt	p.L191F	MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000541540.1_Missense_Mutation_p.L128F|MCMDC2_ENST00000313616.5_Missense_Mutation_p.L191F|MCMDC2_ENST00000492775.1_Missense_Mutation_p.L191F|MCMDC2_ENST00000396592.3_Missense_Mutation_p.L191F	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	191					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TGCATCTTCACTTCAAGAAGA	0.294000													17	96					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510783	110510783	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:110510783G>A	ENST00000378402.5	+	66	10796	c.10692G>A	c.(10690-10692)cgG>cgA	p.R3564R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3564					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)			CTGCTCATCGGAGTCCTAGAT	0.348000										HNSCC(38;0.096)			28	33					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35474515	35474515	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:35474515G>A	ENST00000357182.4	-	11	1730	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	ZMYM6_ENST00000487874.1_Silent_p.F501F|ZMYM6_ENST00000373340.2_Silent_p.F501F|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	501					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGGCAGAGAGGAATTTGCAAA	0.398000													45	30					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584921	7584921	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:7584921G>A	ENST00000379802.3	+	24	7767	c.7426G>A	c.(7426-7428)Gaa>Aaa	p.E2476K	DSP_ENST00000418664.2_Missense_Mutation_p.E1877K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2476	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)		AACCAATAAAGAAATGTCTGT	0.418000													48	131					0	0	1	0	0
CYB5B	80777	broad.mit.edu	37	16	69458751	69458751	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:69458751C>T	ENST00000512062.1	+	1	324	c.153C>T	c.(151-153)ttC>ttT	p.F51F	CYB5B_ENST00000515314.1_Silent_p.F51F|CYB5B_ENST00000307892.8_Silent_p.F55F|CYB5B_ENST00000561792.1_Silent_p.F51F			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	51	Cytochrome b5 heme-binding.				electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				TCACCCGCTTCCTCAACGAGG	0.592000													19	25					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651429	1651429	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:1651429G>A	ENST00000399676.2	+	1	397	c.359G>A	c.(358-360)gGc>gAc	p.G120D		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	120	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGGGCTGTGGCTCCTGTGGG	0.701000													19	18					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190269	209190269	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	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													34	60					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189704595	189704595	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:189704595C>T	ENST00000319332.5	-	6	1367	c.1170G>A	c.(1168-1170)ggG>ggA	p.G390G	LEPREL1_ENST00000427335.2_Silent_p.G209G	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	390					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)	TGTATGAAAACCCCAGACCTT	0.353000													36	76					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9254895	9254895	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:9254895C>T	ENST00000383440.2	+	8	1818	c.1561C>T	c.(1561-1563)Ccc>Tcc	p.P521S	ANKRD12_ENST00000400020.3_Missense_Mutation_p.P521S|ANKRD12_ENST00000262126.3_Missense_Mutation_p.P544S	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	544						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGGTAAATCTCCCAAACATTC	0.338000													40	62					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347943	140347943	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140347943T>A	ENST00000289269.5	+	1	2124	c.1592T>A	c.(1591-1593)cTt>cAt	p.L531H	PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		531	Cadherin 5.				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)			AGTGGCAGCCTTTATGCTGTC	0.522000													40	73					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401153	10401153	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:10401153C>T	ENST00000226207.5	-	31	4357	c.4263G>A	c.(4261-4263)acG>acA	p.T1421T	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1421						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						GCCTCTGCTTCGTCTTCTCAA	0.473000													34	63					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33148450	33148450	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:33148450C>T	ENST00000341947.2	-	11	1506	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	COL11A2_ENST00000361917.1_Missense_Mutation_p.E320K|COL11A2_ENST00000374712.1_Missense_Mutation_p.E346K|COL11A2_ENST00000374714.1_Missense_Mutation_p.E401K|COL11A2_ENST00000395197.1_Missense_Mutation_p.E367K|COL11A2_ENST00000374708.4_Missense_Mutation_p.E341K|COL11A2_ENST00000374713.1_Missense_Mutation_p.E380K|COL11A2_ENST00000357486.1_Missense_Mutation_p.E406K	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	427	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						CTTACCCTCTCTCCAGGGTCT	0.592000													7	13					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65682606	65682606	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:65682606G>A	ENST00000352385.2	-	13	2504	c.2295C>T	c.(2293-2295)tcC>tcT	p.S765S		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	765	Fibronectin type-III 4.					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						GAAGCCAGATGGATGTGGAGC	0.547000													25	28					0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91203550	91203550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:91203550C>T	ENST00000341233.4	-	4	567	c.177G>A	c.(175-177)tgG>tgA	p.W59*	SLC16A12_ENST00000371790.4_Nonsense_Mutation_p.W89*	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	59						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TGGAATGGATCCATGCCGTTT	0.378000													23	26					0	0	1	0	0
CDIPT	10423	broad.mit.edu	37	16	29872497	29872497	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:29872497G>A	ENST00000219789.6	-	3	1140	c.262C>T	c.(262-264)Cct>Tct	p.P88S	CDIPT_ENST00000566113.1_Missense_Mutation_p.P43S|CDIPT_ENST00000570016.1_Missense_Mutation_p.P88S|CDIPT_ENST00000563415.1_Missense_Mutation_p.P88S|CDIPT_ENST00000569956.1_Missense_Mutation_p.P88S|CDIPT_ENST00000561555.1_Missense_Mutation_p.P112S	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	88						endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity			endometrium(1)|lung(3)	4						GTGGCTCCAGGGTACAGCAGG	0.607000													14	26					0	0	1	0	0
ITPKC	80271	broad.mit.edu	37	19	41243659	41243659	+	Silent	SNP	C	C	T	rs61159620		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:41243659C>T	ENST00000263370.2	+	6	1866	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	611						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCTCCCCCTTCTTCAAGACCC	0.542000													42	53					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132180044	132180044	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:132180044C>T	ENST00000374786.1	+	5	1179	c.700C>T	c.(700-702)Ccc>Tcc	p.P234S	NTM_ENST00000427481.2_Missense_Mutation_p.P225S|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Missense_Mutation_p.P234S|NTM_ENST00000374784.1_Missense_Mutation_p.P234S|NTM_ENST00000425719.2_Missense_Mutation_p.P234S|NTM_ENST00000539799.1_Missense_Mutation_p.P234S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	234	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						TACAGGTGTCCCCGTGGGACA	0.473000													63	95					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8798261	8798261	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:8798261C>T	ENST00000359865.3	+	10	2550	c.2408C>T	c.(2407-2409)aCc>aTc	p.T803I	SOGA2_ENST00000518815.1_Missense_Mutation_p.T118I|SOGA2_ENST00000517570.1_Missense_Mutation_p.T762I|SOGA2_ENST00000306285.7_Missense_Mutation_p.T118I|SOGA2_ENST00000400050.3_Missense_Mutation_p.T762I|SOGA2_ENST00000306329.11_Missense_Mutation_p.T1122I	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1113																	CGGCTGCAGACCGCGGACAGG	0.652000													23	43					0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241713040	241713040	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:241713040G>C	ENST00000366559.4	+	3	499	c.188G>C	c.(187-189)cGa>cCa	p.R63P	KMO_ENST00000366558.3_Missense_Mutation_p.R63P|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Missense_Mutation_p.R63P	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	63					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)			CATAGAGGACGACAAGCCTTG	0.418000													66	67					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71663283	71663283	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:71663283G>A	ENST00000268485.3	+	2	525	c.481G>A	c.(481-483)Gag>Aag	p.E161K	MARVELD3_ENST00000567501.1_5'UTR|MARVELD3_ENST00000565261.1_Silent_p.R106R|MARVELD3_ENST00000299952.4_Missense_Mutation_p.E161K|MARVELD3_ENST00000567566.1_Missense_Mutation_p.E161K	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	161	Pro-rich.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ACCCCCTTCGGAGAGATATCT	0.507000													23	45					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10359133	10359133	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:10359133G>A	ENST00000255381.2	-	18	2164	c.2054C>T	c.(2053-2055)cCt>cTt	p.P685L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	685	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						TGTCTTACCAGGAGTTTTAGT	0.463000													65	98					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104492139	104492139	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:104492139C>T	ENST00000229330.4	+	13	1863	c.1759C>T	c.(1759-1761)Cca>Tca	p.P587S	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	587	Fibronectin type-III 2.				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						TCCTTCAAATCCAGTGGCCAC	0.348000													26	33					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183522154	183522154	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:183522154C>T	ENST00000511685.1	+	4	712	c.589C>T	c.(589-591)Cat>Tat	p.H197Y	TENM3_ENST00000406950.2_Missense_Mutation_p.H197Y					teneurin transmembrane protein 3																		TGCACAGCATCATCCATCCAT	0.522000													64	100					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147551	26147551	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:26147551G>A	ENST00000331351.5	+	2	1745	c.1353G>A	c.(1351-1353)caG>caA	p.Q451Q		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	451					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)		AGTGGGAACAGGAAGAGGGTG	0.468000													6	17					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266305	3266305	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:3266305G>A	ENST00000576468.1	+	0	418																											TCCACAAAGGGAAGATGGAAA	0.527000													31	23					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82389990	82389990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:82389990G>A	ENST00000333891.8	-	24	15590	c.15253C>T	c.(15253-15255)Cga>Tga	p.R5085*		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	5008					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R5085*(4)		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						AGACTGAATCGAAAAGTTTCA	0.323000													43	46					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586849	42586849	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:42586849C>T	ENST00000289957.2	+	5	527	c.399C>T	c.(397-399)gtC>gtT	p.V133V		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	133					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGACCAAGGTCATCGTGAAAT	0.522000													24	27					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38798695	38798695	+	Silent	SNP	G	G	A	rs140382462		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:38798695G>A	ENST00000308979.2	-	4	2031	c.1758C>T	c.(1756-1758)atC>atT	p.I586I	TLR1_ENST00000502213.2_Silent_p.I586I	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	586					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TGGTGGCAACGATGGTGACGA	0.502000													70	104					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23174531	23174531	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:23174531G>A	ENST00000389131.3	-	9	1936	c.1567C>T	c.(1567-1569)Cac>Tac	p.H523Y		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	523	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCCCCGTCGTGGCGGCAGTGC	0.652000													18	26					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158813786	158813786	+	Silent	SNP	G	G	A	rs140332455		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158813786G>A	ENST00000368141.4	+	4	705	c.444G>A	c.(442-444)agG>agA	p.R148R		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	148					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	p.R148R(1)		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)					AAGCCAAAAGGAATAAGGTGT	0.443000													64	183					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29041314	29041314	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:29041314G>A	ENST00000257189.4	+	8	1021	c.938G>A	c.(937-939)gGa>gAa	p.G313E		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	313	Cadherin 3.				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)			GGGAATGAAGGAAATTGGTTT	0.348000													31	71					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32863824	32863824	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:32863824T>A	ENST00000380250.3	+	59	9020	c.8524T>A	c.(8524-8526)Ttt>Att	p.F2842I	FRY_ENST00000542859.1_Missense_Mutation_p.F212I|FRY_ENST00000380217.1_Missense_Mutation_p.F24I	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2842					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)		GCTATTGCTTTTTCAGTCCTA	0.458000													30	30					0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37296025	37296025	+	Missense_Mutation	SNP	C	C	T	rs114297422	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:37296025C>T	ENST00000315392.4	-	2	348	c.137G>A	c.(136-138)cGg>cAg	p.R46Q	PLXDC1_ENST00000394316.2_Missense_Mutation_p.R46Q|PLXDC1_ENST00000539608.1_5'UTR|PLXDC1_ENST00000444911.2_Intron	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	46					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCGGGCTCTCCGGTTCCAGCC	0.672000													4	49					0	0	1	0	0
DAZL	1618	broad.mit.edu	37	3	16633556	16633556	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:16633556C>T	ENST00000250863.8	-	10	1182		c.e10+1		DAZL_ENST00000399444.2_Splice_Site	NM_001190811.1	NP_001177740.1	Q92904	DAZL_HUMAN	deleted in azoospermia-like						germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						TATATTCATACCTTGAAGTAG	0.353000													58	61					0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121667	50121667	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:50121667G>A	ENST00000374160.3	-	1	610	c.534C>T	c.(532-534)ccC>ccT	p.P178P	RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Silent_p.P178P|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	178						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GCTTTGGAAAGGGGTTCCGCT	0.512000													24	35					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604092	140604092	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140604092G>A	ENST00000239449.4	+	1	1015	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	PCDHB14_ENST00000515856.2_Missense_Mutation_p.D186N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		339	Cadherin 3.				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)			TAAAGTTATGGATATAAACGA	0.408000													57	54					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754838	49754838	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:49754838C>T	ENST00000304801.3	-	1	215	c.63G>A	c.(61-63)atG>atA	p.M21I		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	21					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)					AGTCTACTCTCATGATGACTC	0.423000													43	108					0	0	1	0	0
S100Z	170591	broad.mit.edu	37	5	76173582	76173582	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:76173582C>T	ENST00000317593.4	+	4	457	c.225C>T	c.(223-225)ttC>ttT	p.F75F	S100Z_ENST00000513010.1_Silent_p.F75F	NM_130772.3	NP_570128.2	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	75	EF-hand 2.						calcium ion binding			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		TTAATGAATTCGTGGTCATGG	0.378000													22	40					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118560418	118560418	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:118560418C>T	ENST00000311085.8	+	37	8309	c.8229C>T	c.(8227-8229)gcC>gcT	p.A2743A	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Silent_p.A2764A	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2743										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)		TTAAGAAAGCCATTAATAATG	0.244000													25	61					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225651759	225651759	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:225651759G>A	ENST00000409592.3	-	50	5730	c.5617C>T	c.(5617-5619)Cgt>Tgt	p.R1873C	DOCK10_ENST00000258390.7_Missense_Mutation_p.R1879C			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1879	DHR-2.						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)		AATGCCACACGATAGTAGCGA	0.433000													14	67					0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101095986	101095986	+	Splice_Site	SNP	A	A	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:101095986A>C	ENST00000537026.1	-	8	840		c.e8+1		NXF5_ENST00000473265.2_Splice_Site|NXF5_ENST00000361708.2_Splice_Site	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5						mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CTAAGGCTTCACCTCAGGGAA	0.483000													64	9					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31320012	31320012	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:31320012G>A	ENST00000269197.5	+	11	2644	c.2644G>A	c.(2644-2646)Gaa>Aaa	p.E882K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	882					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						TTCACCATTGGAATTATCTGT	0.373000													77	48					0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91371890	91371890	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:91371890C>T	ENST00000261172.3	-	3	407	c.315G>A	c.(313-315)ggG>ggA	p.G105G		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	105					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GCCCCAGAACCCCTGTGAATT	0.517000											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	43					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196698946	196698946	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:196698946G>A	ENST00000312428.6	-	48	9184	c.9084C>T	c.(9082-9084)atC>atT	p.I3028I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3028	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						TACCAAACTGGATGCAATTTT	0.378000													26	40					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24349474	24349474	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:24349474T>G	ENST00000175238.6	+	14	1498	c.1415T>G	c.(1414-1416)aTg>aGg	p.M472R	ADAM7_ENST00000520720.1_Missense_Mutation_p.M244R|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.M472R|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	472	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTTCCTGAGATGTGCACTGGC	0.448000													33	41					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152427053	152427053	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:152427053G>A	ENST00000427231.2	-	108	17278	c.17076C>T	c.(17074-17076)atC>atT	p.I5692I	NEB_ENST00000409198.1_Silent_p.I3991I|NEB_ENST00000604864.1_Silent_p.I5692I|NEB_ENST00000172853.10_Silent_p.I3991I|NEB_ENST00000397345.3_Silent_p.I5692I|NEB_ENST00000603639.1_Silent_p.I5692I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5709					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)		CCTGGATGGGGATGGCATCCA	0.488000													6	9					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780774	88780774	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:88780774G>A	ENST00000418177.2	-	2	634	c.267C>T	c.(265-267)atC>atT	p.I89I	GRM5_ENST00000393294.3_Silent_p.I89I|GRM5_ENST00000305447.4_Silent_p.I89I|GRM5_ENST00000305432.5_Silent_p.I89I|GRM5_ENST00000455756.2_Silent_p.I89I|GRM5_ENST00000393297.1_Silent_p.I89I			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	89					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	p.I89I(2)		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)	AGCCCAGTGTGATGTTGGGCA	0.527000													21	30					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229626	3229626	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:3229626C>T	ENST00000217939.6	-	7	6772	c.6618G>A	c.(6616-6618)ctG>ctA	p.L2206L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2206	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATTTCACCACCAGGGTCCCAT	0.443000													33	6					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23926911	23926911	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:23926911C>T	ENST00000402377.3	-	4	1582	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	ZNF681_ENST00000395385.3_Missense_Mutation_p.E412K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	481					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)				CCACATTCTTCACATTTGTAG	0.373000													40	55					0	0	1	0	0
SPRR2A	6700	broad.mit.edu	37	1	153029048	153029048	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:153029048G>A	ENST00000392653.2	-	2	249	c.164C>T	c.(163-165)cCt>cTt	p.P55L		NM_005988.2	NP_005979.1	P35326	SPR2A_HUMAN	small proline-rich protein 2A	55					keratinization	cornified envelope|cytoplasm	binding			large_intestine(2)|ovary(1)	3	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTCACAGGAGGATATTTCTG	0.547000													61	174					0	0	1	0	0
POLDIP3	84271	broad.mit.edu	37	22	42992243	42992243	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:42992243G>A	ENST00000252115.5	-	5	866	c.762C>T	c.(760-762)tcC>tcT	p.S254S	POLDIP3_ENST00000451060.2_Silent_p.S98S|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000348657.2_Silent_p.S225S	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	254					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						CCAGTGTCCGGGACATGTTGG	0.547000													28	13					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651886	121651886	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:121651886C>T	ENST00000393386.2	+	12	3197	c.2786C>T	c.(2785-2787)gCc>gTc	p.A929V	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	929					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						CCTTCTTATGCCTTGTCTGAT	0.438000													53	78					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33242996	33242996	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:33242996C>T	ENST00000280979.4	+	12	3655	c.3485C>T	c.(3484-3486)cCc>cTc	p.P1162L	AKAP6_ENST00000557272.1_Missense_Mutation_p.P1162L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1162					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACCACCAGCCCATGCAGCTG	0.488000													43	52					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120745922	120745922	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:120745922C>T	ENST00000527524.2	+	11	1421	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Silent_p.I378I			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	378					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)	CTTTGAAAATCTTACAGTTCA	0.483000													27	36					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27695119	27695119	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:27695119G>A	ENST00000260570.3	-	15	1625	c.1522C>T	c.(1522-1524)Cgt>Tgt	p.R508C	IFT172_ENST00000416524.2_Missense_Mutation_p.R487C|IFT172_ENST00000359466.6_Missense_Mutation_p.R508C	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	508					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)					CTTCTCACACGAAGTTTCCGG	0.557000													19	46					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36160998	36160998	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:36160998C>T	ENST00000303965.4	-	14	3061	c.2572G>A	c.(2572-2574)Ggg>Agg	p.G858R		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	858					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.G858L(1)		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						AGACTTTGCCCAGCTTTCTTG	0.468000													47	82					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723999	140723999	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140723999C>T	ENST00000253812.6	+	1	399	c.399C>T	c.(397-399)ttC>ttT	p.F133F	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)			CTCCTAATTTCCCAACAGAGG	0.338000													27	33					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7762901	7762901	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:7762901C>T	ENST00000358415.4	+	7	879	c.713C>T	c.(712-714)cCg>cTg	p.P238L	ITIH2_ENST00000379587.4_Missense_Mutation_p.P227L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	238					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GATGGTGTTCCGGTCATTTCT	0.488000													43	56					0	0	1	0	0
CFLAR	8837	broad.mit.edu	37	2	202000749	202000749	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:202000749C>T	ENST00000395148.2	+	4	654	c.442C>T	c.(442-444)Caa>Taa	p.Q148*	CFLAR_ENST00000494258.1_Nonsense_Mutation_p.Q52*|CFLAR_ENST00000355558.4_Nonsense_Mutation_p.Q148*|CFLAR_ENST00000341222.6_Nonsense_Mutation_p.Q148*|CFLAR_ENST00000341582.6_Nonsense_Mutation_p.Q148*|CFLAR_ENST00000309955.2_Nonsense_Mutation_p.Q148*|CFLAR_ENST00000479953.2_Nonsense_Mutation_p.Q52*|CFLAR_ENST00000342795.5_Nonsense_Mutation_p.Q148*|CFLAR_ENST00000340870.5_Nonsense_Mutation_p.Q148*|CFLAR_ENST00000440180.1_Nonsense_Mutation_p.Q148*|CFLAR_ENST00000457277.1_Nonsense_Mutation_p.Q148*|CFLAR_ENST00000423241.2_Nonsense_Mutation_p.Q148*|CFLAR_ENST00000443227.1_Nonsense_Mutation_p.Q52*			O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	148	DED 2.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TGCCCCAGATCAACTGGATTT	0.393000													43	58					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20525502	20525502	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:20525502C>T	ENST00000504154.1	+	13	1502	c.1250C>T	c.(1249-1251)tCa>tTa	p.S417L	SLIT2_ENST00000503837.1_Missense_Mutation_p.S421L|SLIT2_ENST00000273739.5_Missense_Mutation_p.S421L|SLIT2_ENST00000503823.1_Missense_Mutation_p.S417L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	417					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						GGGACCTTTTCACCTCTTCGG	0.428000													70	85					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52942077	52942077	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:52942077G>T	ENST00000267119.5	-	5	906	c.837C>A	c.(835-837)caC>caA	p.H279Q		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	279	Linker 12.|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)		TGTCACTGATGTGGGACTGGA	0.532000													26	47					1.77063e-15	1.79665e-15	1	1	0
ZRANB3	84083	broad.mit.edu	37	2	135960482	135960482	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:135960482G>A	ENST00000401392.1	-	20	3267	c.3055C>T	c.(3055-3057)Cac>Tac	p.H1019Y	ZRANB3_ENST00000536680.1_Missense_Mutation_p.H1019Y|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Missense_Mutation_p.H1021Y			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	1021						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GGCTTGATGTGATCCACCTGC	0.448000													7	6					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73552641	73552641	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:73552641C>T	ENST00000339362.5	+	16	2680	c.2233C>T	c.(2233-2235)Ctt>Ttt	p.L745F	NEO1_ENST00000560262.1_Missense_Mutation_p.L745F|NEO1_ENST00000558964.1_Missense_Mutation_p.L745F|NEO1_ENST00000261908.6_Missense_Mutation_p.L745F			Q92859	NEO1_HUMAN	neogenin 1	745	Fibronectin type-III 4.				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						GCCTAGCTCTCTTCACGTACG	0.468000													51	45					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122862043	122862043	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:122862043G>A	ENST00000358808.2	-	3	704	c.550C>T	c.(550-552)Ccg>Tcg	p.P184S	CLIP1_ENST00000540338.1_Missense_Mutation_p.P184S|CLIP1_ENST00000302528.7_Missense_Mutation_p.P184S|CLIP1_ENST00000537178.1_Missense_Mutation_p.P184S|CLIP1_ENST00000361654.4_Missense_Mutation_p.P184S	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	184	Ser-rich.				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)		TTGCTGATCGGAGGCGTAGCT	0.507000													79	78					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84302253	84302253	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:84302253G>A	ENST00000376499.3	-	2	1185	c.121C>T	c.(121-123)Cac>Tac	p.H41Y	TLE1_ENST00000376463.1_5'UTR|TLE1_ENST00000376472.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	41	Gln-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ACGCACCTGTGATACTGCGCC	0.657000											OREG0019267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	3					0	0	1	0	0
ITM2A	9452	broad.mit.edu	37	X	78618637	78618637	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:78618637C>T	ENST00000434584.2	-	2	448		c.e2-1		ITM2A_ENST00000373298.2_Splice_Site|ITM2A_ENST00000469541.1_Splice_Site	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A							integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						AAATGGTGCTCTAAAAGACAA	0.393000													10	2					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139564370	139564370	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:139564370C>A	ENST00000358430.3	-	10	1580	c.1348G>T	c.(1348-1350)Gag>Tag	p.E450*	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	450						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TCGTTTCTCTCTTCTTGTAAA	0.433000													39	33					1.56738e-10	1.58169e-10	1	1	0
IGLV2-8	28817	broad.mit.edu	37	22	23165519	23165519	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:23165519C>T	ENST00000390317.2	+	0	252																											CCTCCGCGTCCGGGTCTCCTG	0.592000													163	48					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10942983	10942983	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:10942983G>A	ENST00000298232.7	-	11	917	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L	TPTE_ENST00000361285.4_Silent_p.L202L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.L164L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	202					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)		ATTCTTAACAGAATAATAAGT	0.289000													21	137					0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389258	4389258	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:4389258G>A	ENST00000408920.2	-	1	358	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R90C(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCCAGCACGGAACCAGAAG	0.532000													22	35					0	0	1	0	0
RFPL2	10739	broad.mit.edu	37	22	32589187	32589187	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:32589187G>A	ENST00000248980.4	-	1	279	c.75C>T	c.(73-75)ccC>ccT	p.P25P	RFPL2_ENST00000400237.1_Intron|RFPL2_ENST00000400236.3_Intron|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Intron	NM_006605.3	NP_006596.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	0							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CCACTGCCAGGGGAAAAGTAC	0.473000													18	46					0	0	1	0	0
ANP32D	23519	broad.mit.edu	37	12	48866516	48866516	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:48866516C>T	ENST00000266594.1	+	1	69	c.69C>T	c.(67-69)ttC>ttT	p.F23F		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	23										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AAGAACTTTTCCTGGACAACA	0.453000													42	99					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639511	7639511	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:7639511C>T	ENST00000359156.4	-	9	2324	c.2122G>A	c.(2122-2124)Gaa>Aaa	p.E708K	CD163_ENST00000541972.1_Missense_Mutation_p.E696K|CD163_ENST00000432237.2_Missense_Mutation_p.E708K|CD163_ENST00000396620.3_Missense_Mutation_p.E741K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	708					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						ACAGCACTTTCTTCTGGAATG	0.413000													37	44					0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16504379	16504379	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:16504379C>T	ENST00000304523.5	-	8	1332	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	LDB2_ENST00000515064.1_Missense_Mutation_p.E335K|LDB2_ENST00000441778.2_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000502640.1_3'UTR	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	337							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AAGTCCTCCTCGTCGTCCATG	0.537000													90	114					0	0	1	0	0
DEFA4	1669	broad.mit.edu	37	8	6794302	6794302	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:6794302C>T	ENST00000297435.2	-	2	244	c.120G>A	c.(118-120)caG>caA	p.Q40Q		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	40					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)		TAGATATGTCCTGGTCTTCTG	0.547000													31	42					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13716727	13716727	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:13716727C>T	ENST00000265104.4	-	74	12882	c.12778G>A	c.(12778-12780)Gat>Aat	p.D4260N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4260					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)					AATCTCTTATCATAGTCGTCA	0.378000									Kartagener syndrome				30	26					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417963	150417963	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:150417963C>T	ENST00000307194.5	+	3	1011	c.871C>T	c.(871-873)Ctg>Ttg	p.L291L		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)		GTTCTGGGTGCTGCTCCACAG	0.667000													12	6					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3046501	3046501	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:3046501C>T	ENST00000602557.1	-	36	5989	c.5434G>A	c.(5434-5436)Ggt>Agt	p.G1812S	CSMD1_ENST00000602723.1_Missense_Mutation_p.G1812S|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1811S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1811S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1811S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1812S|CSMD1_ENST00000520002.1_Missense_Mutation_p.G1812S|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1812	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)		AGGATTGTACCTCTTCGTTGA	0.463000													12	4					0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45391591	45391591	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:45391591C>T	ENST00000252483.5	+	9	1572	c.1572C>T	c.(1570-1572)tcC>tcT	p.S524S	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	524					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)		CCTCTGATTCCTACCAGGGCA	0.542000													20	33					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25861749	25861749	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:25861749G>A	ENST00000376351.3	+	7	2045	c.1686G>A	c.(1684-1686)ggG>ggA	p.G562G		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	562						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTGGCCAGGGGAAAACATCCG	0.443000													20	33					0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558299	159558299	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:159558299C>T	ENST00000255040.2	+	2	570	c.473C>T	c.(472-474)tCc>tTc	p.S158F		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	158	Pentaxin.		S -> G.		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)					GAACAGGATTCCTATGGGGGC	0.502000													46	46					0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150484178	150484178	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:150484178C>T	ENST00000369047.4	+	7	1079	c.954C>T	c.(952-954)ttC>ttT	p.F318F	ECM1_ENST00000346569.6_Intron|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Silent_p.F345F	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	318	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	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;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGAGGCGCTTCCGCTCTGTGC	0.602000													62	39					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661510	77661510	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:77661510G>A	ENST00000296043.6	+	5	3137	c.2184G>A	c.(2182-2184)agG>agA	p.R728R		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	728					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)			CCGAGGGGAGGACCGGTGCCT	0.677000													35	47					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53167416	53167416	+	Missense_Mutation	SNP	C	C	T	rs149868801	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:53167416C>T	ENST00000332411.2	-	3	879	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	276	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGTTGATTTCATCTTCATAC	0.498000													16	36					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120673805	120673805	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:120673805C>T	ENST00000273666.6	+	3	479	c.208C>T	c.(208-210)Cct>Tct	p.P70S	STXBP5L_ENST00000492541.1_Missense_Mutation_p.P70S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P70S|STXBP5L_ENST00000471454.1_Missense_Mutation_p.P70S|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P70S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	70					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)		GCATGGTTTTCCTCATCAGCC	0.383000													15	31					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43243162	43243162	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:43243162C>T	ENST00000327495.5	-	2	328	c.144G>A	c.(142-144)ggG>ggA	p.G48G	PSG3_ENST00000595140.1_Silent_p.G48G|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	48	Ig-like V-type.				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)				GAACGTCCTTCCCCTTGGAAA	0.463000													137	160					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196303142	196303142	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:196303142C>T	ENST00000367433.5	-	17	1933	c.1832G>A	c.(1831-1833)gGc>gAc	p.G611D	KCNT2_ENST00000367431.4_Missense_Mutation_p.G561D|KCNT2_ENST00000451324.2_Missense_Mutation_p.G222D|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.G611D			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	611						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						CAGGGTAGGGCCACTTGCTGA	0.398000													18	60					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954336	35954336	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:35954336G>A	ENST00000274278.3	-	7	1897	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	514						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)			GCCCCACGCAGCCACCTGGCC	0.587000													19	30					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77365615	77365615	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:77365615C>T	ENST00000451710.3	-	30	5259	c.5022G>A	c.(5020-5022)tgG>tgA	p.W1674*	TRPM6_ENST00000449912.2_Nonsense_Mutation_p.W1669*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.W1674*|TRPM6_ENST00000376871.3_Nonsense_Mutation_p.W507*|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.W625*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.W1669*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.W1674*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1674					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						TCCTGGAATTCCACAAAGAGT	0.423000													29	45					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453688	84453688	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:84453688C>T	ENST00000377084.2	-	1	2840	c.1955G>A	c.(1954-1956)cGa>cAa	p.R652Q		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	652						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTTGGCATCTCGTCTCTTGGA	0.567000													29	32					0	0	1	0	0
WRNIP1	56897	broad.mit.edu	37	6	2779649	2779649	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:2779649C>T	ENST00000380769.4	+	4	980	c.749C>T	c.(748-750)tCt>tTt	p.S250F	WRNIP1_ENST00000380773.4_Missense_Mutation_p.S470F|WRNIP1_ENST00000380764.1_Missense_Mutation_p.S86F|WRNIP1_ENST00000380771.4_Missense_Mutation_p.S445F			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	470					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CAATCCTATTCTCCCAGTAGA	0.517000													19	55					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152554088	152554088	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:152554088G>A	ENST00000427231.2	-	14	1429	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	NEB_ENST00000409198.1_Silent_p.L409L|NEB_ENST00000604864.1_Silent_p.L409L|NEB_ENST00000172853.10_Silent_p.L409L|NEB_ENST00000397345.3_Silent_p.L409L|NEB_ENST00000603639.1_Silent_p.L409L	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	409					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	p.L409L(2)		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)		GAACAGTATCGAGCTTGAATT	0.328000													44	48					0	0	1	0	0
ACTR6	64431	broad.mit.edu	37	12	100603890	100603890	+	Missense_Mutation	SNP	C	C	T	rs142634632		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:100603890C>T	ENST00000188312.2	+	5	1184	c.419C>T	c.(418-420)cCt>cTt	p.P140L	ACTR6_ENST00000552376.1_Missense_Mutation_p.P140L|ACTR6_ENST00000551617.1_Missense_Mutation_p.P58L|ACTR6_ENST00000546902.1_Missense_Mutation_p.P58L	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	140						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						CGAGATAATCCTTCCGAATTA	0.294000													48	61					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70064217	70064217	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:70064217C>T	ENST00000370598.1	+	27	4373	c.3552C>T	c.(3550-3552)atC>atT	p.I1184I	BAI3_ENST00000238918.8_Silent_p.I390I|BAI3_ENST00000546190.1_Silent_p.I148I	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1184					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)				ATGCTCAAATCATGGTGAGTT	0.363000													37	78					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155450948	155450948	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:155450948G>A	ENST00000368346.3	-	3	2352	c.1713C>T	c.(1711-1713)ccC>ccT	p.P571P	ASH1L_ENST00000392403.3_Silent_p.P571P			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	571					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)			AAGTTTCAGGGGGACTTCTGG	0.403000													78	41					0	0	1	0	0
DKK4	27121	broad.mit.edu	37	8	42231804	42231804	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:42231804C>T	ENST00000220812.2	-	4	675	c.489G>A	c.(487-489)acG>acA	p.T163T		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	163	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)			TACAAATTTTCGTCCAAAAAT	0.478000													36	49					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157551398	157551398	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:157551398C>T	ENST00000271532.1	-	7	1307	c.1172G>A	c.(1171-1173)gGa>gAa	p.G391E	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	391						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TCCAGTGGCTCCCGCGGCGAC	0.572000													24	53					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129203	248129203	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248129203C>A	ENST00000366480.3	+	1	669	c.570C>A	c.(568-570)aaC>aaA	p.N190K	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGCTCATTAACCACTTTTTCT	0.443000													107	90					5.64992e-62	5.77111e-62	1	1	0
BAI3	577	broad.mit.edu	37	6	69728383	69728383	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:69728383G>A	ENST00000370598.1	+	13	2920	c.2099G>A	c.(2098-2100)gGa>gAa	p.G700E		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	700					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)				TTAATGACTGGAAATGTAGGT	0.313000													31	40					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515899	140515899	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140515899G>A	ENST00000231134.5	+	1	1100	c.883G>A	c.(883-885)Gag>Aag	p.E295K		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		295	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.E295K(1)		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)			TGTAATAGACGAGAAAACAGC	0.458000													77	115					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109816585	109816585	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:109816585G>A	ENST00000424296.2	-	39	5450	c.5374C>T	c.(5374-5376)Ccg>Tcg	p.P1792S	RP5-919F19.5_ENST00000423747.1_RNA	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		AGAAGTATCGGTTCCCTTAAT	0.383000													26	21					0	0	1	0	0
OGN	4969	broad.mit.edu	37	9	95165765	95165765	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:95165765C>T	ENST00000375561.5	-	2	118		c.e2-1		CENPP_ENST00000375587.3_Intron|OGN_ENST00000262551.4_5'UTR	NM_014057.3	NP_054776.1	P20774	MIME_HUMAN	osteoglycin							extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						CTCTTTTTCCCTGGAAATAAA	0.408000													13	16					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186680154	186680154	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:186680154G>A	ENST00000343098.5	+	19	20649	c.20649G>A	c.(20647-20649)atG>atA	p.M6883I	FSIP2_ENST00000424728.1_Missense_Mutation_p.M6794I	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						ACAGAATTATGAGTTCATCTT	0.323000													31	31					0	0	1	0	0
ENO3	2027	broad.mit.edu	37	17	4858424	4858424	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:4858424G>A	ENST00000323997.6	+	7	631	c.499G>A	c.(499-501)Gag>Aag	p.E167K	ENO3_ENST00000519584.1_Missense_Mutation_p.E124K|ENO3_ENST00000518175.1_Missense_Mutation_p.E167K	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	167					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GGCCATGCAGGAGTTCATGAT	0.597000													18	41					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6472834	6472834	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:6472834G>A	ENST00000263125.5	-	17	2002	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	PRKCQ_ENST00000397176.2_Missense_Mutation_p.R572W|PRKCQ_ENST00000539722.1_Missense_Mutation_p.R510W	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	635	AGC-kinase C-terminal.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.R635W(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TTGATCTCCCGAAACAAAGGG	0.592000													21	21					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77325347	77325347	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:77325347C>T	ENST00000282849.5	-	21	3636	c.3218G>A	c.(3217-3219)aGg>aAg	p.R1073K		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1073	TSP type-1 4.				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						CTCCCTCTTCCTCACACCCAA	0.483000													101	129					0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49173971	49173971	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:49173971G>A	ENST00000270235.4	-	2	368	c.273C>T	c.(271-273)atC>atT	p.I91I	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	91						extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CAGCAGACAGGATGAGGGCTG	0.662000													5	10					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324524	61324524	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:61324524C>T	ENST00000283752.5	-	6	735	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	SERPINB3_ENST00000332821.8_Missense_Mutation_p.E198K|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	198					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						CAAAATTTTTCCTCTTTAGTA	0.294000													40	32					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36484872	36484872	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:36484872G>A	ENST00000273183.3	+	2	428	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	STAC_ENST00000457375.2_Missense_Mutation_p.R43Q|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	43					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	p.R43Q(2)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AAACTAAAACGATCACTTTCT	0.468000													24	32					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617145	77617145	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:77617145G>A	ENST00000521891.2	+	2	1270	c.822G>A	c.(820-822)agG>agA	p.R274R	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.R274R|ZFHX4_ENST00000050961.6_Silent_p.R274R|ZFHX4_ENST00000455469.2_Silent_p.R274R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	274						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)			ATGGGAAAAGGAAACCTGTTT	0.428000										HNSCC(33;0.089)			29	45					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50897100	50897100	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:50897100T>C	ENST00000313478.7	-	21	3232	c.2951A>G	c.(2950-2952)cAa>cGa	p.Q984R	TRPM7_ENST00000560955.1_Missense_Mutation_p.Q984R	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	984					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCCTGCCTGTTGATTTACAGC	0.299000													15	32					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305970	54305970	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:54305970G>A	ENST00000545554.1	+	1	870	c.870G>A	c.(868-870)caG>caA	p.Q290Q	UNC13C_ENST00000260323.11_Silent_p.Q290Q|UNC13C_ENST00000537900.1_Silent_p.Q290Q			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	290					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)		AAATTGAGCAGTTGCGCACAG	0.458000													49	83					0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113703966	113703966	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:113703966G>A	ENST00000374431.3	-	4	911	c.528C>T	c.(526-528)atC>atT	p.I176I	LPAR1_ENST00000541779.1_Silent_p.I177I|LPAR1_ENST00000358883.4_Silent_p.I176I|LPAR1_ENST00000374430.2_Silent_p.I176I|LPAR1_ENST00000538760.1_Silent_p.I177I	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	176					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						CACCCATAACGATGGCCATAG	0.498000													41	74					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184525	72184525	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:72184525G>A	ENST00000537465.1	-	5	776	c.618C>T	c.(616-618)ctC>ctT	p.L206L	PMFBP1_ENST00000237353.10_Silent_p.L206L|PMFBP1_ENST00000355636.6_Silent_p.L61L			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	206										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)				TGATCCCGCCGAGTTCCCCCT	0.527000													82	111					0	0	1	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68693236	68693236	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:68693236T>C	ENST00000283916.6	-	8	793	c.695A>G	c.(694-696)aAc>aGc	p.N232S	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.N115S|RP11-453E17.1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	232	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						AGGATTAGAGTTGCTAAAACA	0.313000													23	29					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2020574	2020574	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:2020574G>A	ENST00000262113.4	+	9	1084	c.943G>A	c.(943-945)Gag>Aag	p.E315K	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	315	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)		GCCGCGCGCCGAGTGGTACCG	0.607000													15	14					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656437	40656437	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:40656437C>T	ENST00000406785.1	-	2	1173	c.984G>A	c.(982-984)agG>agA	p.R328R	SLC8A1_ENST00000406391.2_Silent_p.R328R|SLC8A1_ENST00000405269.1_Silent_p.R328R|SLC8A1_ENST00000402441.1_Silent_p.R328R|SLC8A1_ENST00000332839.4_Silent_p.R328R|SLC8A1_ENST00000542756.1_Silent_p.R328R|SLC8A1_ENST00000542024.1_Silent_p.R328R|SLC8A1_ENST00000405901.3_Silent_p.R328R|SLC8A1_ENST00000408028.2_Silent_p.R328R|SLC8A1_ENST00000403092.1_Silent_p.R328R			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	328					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.R328R(1)		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)	CCTTCAGAATCCTAGCCATTT	0.403000													77	105					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48914966	48914966	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:48914966G>A	ENST00000294954.7	-	11	1991	c.1970C>T	c.(1969-1971)tCa>tTa	p.S657L	LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.S595L|LHCGR_ENST00000405626.1_Missense_Mutation_p.S630L|LHCGR_ENST00000403273.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	657					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)	GGTGTAAGCTGAAAAATCTTT	0.408000													67	78					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160151741	160151741	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:160151741G>A	ENST00000368081.4	+	20	3360	c.2889G>A	c.(2887-2889)ggG>ggA	p.G963G	ATP1A4_ENST00000470705.1_Silent_p.G99G|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	963					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)			TAATATTTGGGATCCTGGAGG	0.532000													52	162					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561172	44561172	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:44561172C>T	ENST00000332567.4	-	1	816	c.464G>A	c.(463-465)aGa>aAa	p.R155K	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	155					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGGCACTTTCTCTCAGCTCT	0.662000													31	98					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733793	28733793	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:28733793G>A	ENST00000550043.1	+	0	198																											GATGCAGGAGGAGAGCCTGCA	0.602000													22	29					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37439743	37439743	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:37439743A>C	ENST00000379826.4	-	5	1276	c.934T>G	c.(934-936)Tgt>Ggt	p.C312G	SMAD9_ENST00000399275.2_Missense_Mutation_p.C312G|SMAD9_ENST00000350148.5_Missense_Mutation_p.C275G	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	312	MH2.				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)		AGTCCAAGACAGAATCTGTTC	0.418000													30	51					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995111	140995111	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:140995111C>T	ENST00000285879.4	+	4	2207	c.1921C>T	c.(1921-1923)Ccc>Tcc	p.P641S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	641							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)					ATCCAGTCTTCCCCAGAGTTT	0.567000										HNSCC(15;0.026)			172	36					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6381970	6381970	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:6381970G>A	ENST00000262483.8	-	7	761	c.674C>T	c.(673-675)tCc>tTc	p.S225F	ACKR6_ENST00000421306.3_Missense_Mutation_p.S189F	NM_031220.3	NP_112497.2																					CTGCGGGGAGGAGATGGCCAA	0.632000													5	14					0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53912384	53912384	+	Splice_Site	SNP	C	C	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:53912384C>A	ENST00000335754.3	-	3	505	c.405_splice	c.e3+1	p.Q135_splice	ACTR8_ENST00000482349.1_Splice_Site_p.Q24_splice	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	135					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TTAATCGAACCTGTTCAGGGG	0.368000													81	102					1.63007e-36	1.66258e-36	1	1	0
PSG2	5670	broad.mit.edu	37	19	43585170	43585170	+	Missense_Mutation	SNP	C	C	T	rs150218743		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:43585170C>T	ENST00000406487.1	-	2	391	c.293G>A	c.(292-294)cGa>cAa	p.R98Q		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	98	Ig-like V-type.				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)				TGCTGTTTCTCGTCCACTATA	0.448000													151	200					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56483759	56483759	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:56483759G>A	ENST00000370765.6	-	23	5180	c.5073C>T	c.(5071-5073)tcC>tcT	p.S1691S	DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1054					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)			TCTCTTCTTTGGAAGCATTCA	0.388000													78	152					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634363	156634363	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:156634363C>T	ENST00000296518.7	+	7	1409	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	GUCY1A3_ENST00000511507.1_Silent_p.L400L|GUCY1A3_ENST00000511108.1_Silent_p.L400L|GUCY1A3_ENST00000513574.1_Silent_p.L400L|GUCY1A3_ENST00000455639.2_Silent_p.L400L|GUCY1A3_ENST00000506455.1_Silent_p.L400L|GUCY1A3_ENST00000393832.3_Silent_p.L142L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	400					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.L400L(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GGCTCTACCTCTCAGACATCC	0.483000													36	42					0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212942	131212942	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:131212942C>T	ENST00000298542.4	-	12	1278	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	FRMD7_ENST00000464296.1_Missense_Mutation_p.G353E|FRMD7_ENST00000370879.1_Missense_Mutation_p.G248E	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	368					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					tgcGTGCACTCCATTCACATT	0.478000													78	15					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143096771	143096771	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:143096771C>T	ENST00000275815.3	-	4	894	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	270	Cys-rich.					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)				CTGCCACCTTCCTCATAGCCA	0.637000													27	51					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37606088	37606088	+	Splice_Site	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:37606088A>T	ENST00000434837.2	-	16	3847	c.2667_splice	c.e16-1	p.I890_splice	MDGA1_ENST00000505425.1_Splice_Site_p.I890_splice|MDGA1_ENST00000297153.7_Splice_Site_p.I894_splice	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	890	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						CTCAAAAATAATCTGGGGTGG	0.572000													6	28					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161116303	161116303	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:161116303C>T	ENST00000523217.1	+	5	702	c.460C>T	c.(460-462)Cct>Tct	p.P154S	GABRA6_ENST00000274545.5_Missense_Mutation_p.P164S|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	164					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTTAACTTTCCTATGGATGG	0.388000										TCGA Ovarian(5;0.080)			32	52					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28841951	28841951	+	Silent	SNP	C	C	T	rs142904892		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:28841951C>T	ENST00000336783.4	+	9	1217	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	ATXN2L_ENST00000340394.8_Silent_p.I350I|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Silent_p.I350I|ATXN2L_ENST00000382686.4_Silent_p.I350I|ATXN2L_ENST00000570200.1_Silent_p.I350I|ATXN2L_ENST00000325215.6_Silent_p.I350I|ATXN2L_ENST00000395547.2_Silent_p.I350I	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	350						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGAAGTATATCCCTCTGCCTC	0.562000													20	24					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457386	45457386	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:45457386G>A	ENST00000548424.1	+	0	448																											GGAACTAGATGAAGGAGTCTT	0.473000													25	37					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114462246	114462246	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:114462246T>C	ENST00000513154.1	-	10	2431	c.2105A>G	c.(2104-2106)gAa>gGa	p.E702G	TRIM36_ENST00000282369.3_Missense_Mutation_p.E714G|TRIM36_ENST00000514154.1_Missense_Mutation_p.E559G			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	714	B30.2/SPRY.					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)		GATGGGTTCTTCAAGCTGAAT	0.403000													24	16					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207454132	207454132	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:207454132G>A	ENST00000264377.3	+	21	2180		c.e21-1		ADAM23_ENST00000374416.1_Splice_Site|ADAM23_ENST00000374415.3_Splice_Site	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23						cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		ATCTCCAAAAGAGGCTGCAGG	0.443000													18	21					0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98927146	98927146	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:98927146C>T	ENST00000266732.4	+	4	1349	c.1111C>T	c.(1111-1113)Ccg>Tcg	p.P371S	TMPO_ENST00000556029.1_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000261210.5_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	273	Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACTAATTTCTCCGCCACTTGC	0.473000													39	61					0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124195365	124195365	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:124195365C>T	ENST00000518448.1	+	2	2283	c.269C>T	c.(268-270)gCa>gTa	p.A90V	FAM83A_ENST00000276699.6_Missense_Mutation_p.A90V|FAM83A_ENST00000522648.1_Missense_Mutation_p.A90V|FAM83A_ENST00000318462.6_Missense_Mutation_p.A90V|FAM83A_ENST00000546351.1_Missense_Mutation_p.A90V|FAM83A_ENST00000536633.1_Missense_Mutation_p.A90V			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	90										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)			GGGGCGGAAGCAGGCCCTAAG	0.677000													23	36					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6161740	6161740	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:6161740C>T	ENST00000261405.5	-	16	2409	c.2155G>A	c.(2155-2157)Gaa>Aaa	p.E719K		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	719					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)	AAGATGTCTTCTGGCTGGAAG	0.587000													47	82					0	0	1	0	0
FAM126B	285172	broad.mit.edu	37	2	201876190	201876190	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:201876190G>A	ENST00000418596.2	-	6	526	c.339C>T	c.(337-339)atC>atT	p.I113I		NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	113						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTTTATCAGCGATTTCCTATA	0.308000													12	15					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7809871	7809871	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:7809871C>T	ENST00000315599.7	-	5	878	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	CD209_ENST00000593660.1_Missense_Mutation_p.E216K|CD209_ENST00000204801.8_Missense_Mutation_p.E242K|CD209_ENST00000601256.1_Missense_Mutation_p.E262K|CD209_ENST00000602261.1_Missense_Mutation_p.E194K|CD209_ENST00000354397.6_Missense_Mutation_p.E286K|CD209_ENST00000593821.1_Missense_Mutation_p.E150K|CD209_ENST00000315591.8_Missense_Mutation_p.E262K|CD209_ENST00000394173.4_Missense_Mutation_p.E125K|CD209_ENST00000601951.1_Missense_Mutation_p.E262K|CD209_ENST00000301357.8_Missense_Mutation_p.E150K|CD209_ENST00000394161.5_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	286	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCCCCACTTCTTTGCAGGCG	0.587000													29	50					0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47162359	47162359	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:47162359G>A	ENST00000562435.1	-	4	742	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	NETO2_ENST00000303155.5_Missense_Mutation_p.R120C	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	120	CUB 1.					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)				CCACAGTAACGATCTATAAGA	0.403000										HNSCC(25;0.065)			66	105					0	0	1	0	0
NR1I3	9970	broad.mit.edu	37	1	161199501	161199501	+	Missense_Mutation	SNP	C	C	T	rs2307416		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:161199501C>T	ENST00000428574.2	-	9	1087	c.994G>A	c.(994-996)Ggt>Agt	p.G332S	NR1I3_ENST00000412844.2_Missense_Mutation_p.G307S|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000367980.2_3'UTR|TOMM40L_ENST00000367987.1_3'UTR|NR1I3_ENST00000367982.4_3'UTR|NR1I3_ENST00000442691.2_Missense_Mutation_p.G331S|TOMM40L_ENST00000474486.1_3'UTR|NR1I3_ENST00000505005.1_Missense_Mutation_p.G288S|NR1I3_ENST00000508740.1_Missense_Mutation_p.G303S|TOMM40L_ENST00000367988.3_3'UTR|NR1I3_ENST00000437437.2_Missense_Mutation_p.G298S|NR1I3_ENST00000512372.1_Missense_Mutation_p.G259S|NR1I3_ENST00000367983.4_3'UTR			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	0					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCCTTTGAACCCGGCCCAATC	0.527000													25	66					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36093780	36093780	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:36093780C>T	ENST00000225893.4	-	3	940	c.579G>A	c.(577-579)atG>atA	p.M193I	HNF1B_ENST00000427275.2_Intron|HNF1B_ENST00000561193.1_Intron|HNF1B_ENST00000560016.1_Missense_Mutation_p.M193I	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	193					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)			TTTTGTCTGTCATATTTCCAG	0.488000													29	58					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371745	240371745	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:240371745C>T	ENST00000319653.9	+	5	3863	c.3633C>T	c.(3631-3633)ccC>ccT	p.P1211P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1211	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)			CACCTCCTCCCTTGCCAGGTA	0.642000													14	10					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50402813	50402813	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:50402813G>A	ENST00000435965.1	-	36	3266	c.3093C>T	c.(3091-3093)gcC>gcT	p.A1031A	CACNA2D2_ENST00000479441.1_Silent_p.A1031A|CACNA2D2_ENST00000266039.3_Silent_p.A1024A|CACNA2D2_ENST00000423994.2_Silent_p.A1032A|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000429770.1_Silent_p.A1025A|CACNA2D2_ENST00000424201.2_Silent_p.A1024A|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000360963.3_Silent_p.A955A|CACNA2D2_ENST00000395083.1_Silent_p.A1024A|XXcos-LUCA11.4_ENST00000607121.1_RNA			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	1031					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)	AGTCGATGATGGCGTTGTAGG	0.657000													13	12					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61956379	61956379	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:61956379C>T	ENST00000280772.1	-	15	1885	c.1694G>A	c.(1693-1695)gGa>gAa	p.G565E	ANK3_ENST00000373827.2_Missense_Mutation_p.G559E|ANK3_ENST00000503366.1_Missense_Mutation_p.G548E	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						AGGAGTAAATCCTTTCTGaaa	0.353000													12	18					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18040898	18040898	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:18040898G>A	ENST00000205890.5	+	16	5118	c.4779_splice	c.e16-1	p.D1594_splice		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1594	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)					CACCTGGCAGGACCTGAGCTT	0.542000													7	19					0	0	1	0	0
TEX264	51368	broad.mit.edu	37	3	51718487	51718487	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:51718487C>T	ENST00000415259.1	+	3	1398	c.317C>T	c.(316-318)tCg>tTg	p.S106L	TEX264_ENST00000395057.1_Missense_Mutation_p.S106L|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000416589.1_Missense_Mutation_p.S106L|TEX264_ENST00000457573.1_Missense_Mutation_p.S106L|TEX264_ENST00000341333.5_Missense_Mutation_p.S106L			Q9Y6I9	TX264_HUMAN	testis expressed 264	106						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		GGTGAGGAATCGCCCTCCCCT	0.582000													14	31					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91465176	91465176	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:91465176C>T	ENST00000416354.1	+	2	197	c.125C>T	c.(124-126)tCc>tTc	p.S42F	KIF20B_ENST00000394289.2_Missense_Mutation_p.S42F|KIF20B_ENST00000371728.3_Missense_Mutation_p.S42F|KIF20B_ENST00000260753.4_Missense_Mutation_p.S42F			Q96Q89	KI20B_HUMAN	kinesin family member 20B	42					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	p.S42F(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CATGAATTTTCCTTAGTTGCT	0.393000													23	46					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754076	49754076	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:49754076C>T	ENST00000304801.3	-	1	977	c.825G>A	c.(823-825)aaG>aaA	p.K275K		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	275					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.K275N(1)		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)					TTACACCATTCTTTTGTGCTT	0.428000													79	211					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145622994	145622994	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:145622994C>T	ENST00000349769.3	-	21	2268	c.2174G>A	c.(2173-2175)aGt>aAt	p.S725N		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	725					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTCCGGGCCACTGCGGCCCCC	0.701000													16	13					0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10084769	10084769	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:10084769G>A	ENST00000382452.2	-	10	1355	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F	WDR1_ENST00000382451.2_Missense_Mutation_p.S218F|WDR1_ENST00000502702.1_Missense_Mutation_p.S218F|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000499869.2_Missense_Mutation_p.S358F	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	358					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCCAGCGAAGGAGTCGTTCTC	0.597000													24	9					0	0	1	0	0
ASPA	443	broad.mit.edu	37	17	3397738	3397738	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:3397738C>T	ENST00000263080.2	+	5	887	c.729C>T	c.(727-729)atC>atT	p.I243I	ASPA_ENST00000456349.2_Silent_p.I243I|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	243					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)	CTGCTATCATCCATCCTAATC	0.363000													88	127					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100179	110100179	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:110100179C>T	ENST00000518632.1	+	2	789	c.438C>T	c.(436-438)atC>atT	p.I146I	TRHR_ENST00000311762.2_Silent_p.I146I			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	146						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)			AAAAGATTATCATCTTTGTCT	0.408000													29	46					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152937017	152937017	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:152937017G>A	ENST00000393831.2	-	6	959	c.525C>T	c.(523-525)acC>acT	p.T175T	PNCK_ENST00000370142.1_Silent_p.T175T|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000447676.2_Silent_p.T258T|PNCK_ENST00000370150.1_Silent_p.T175T|PNCK_ENST00000370145.4_Silent_p.T192T|PNCK_ENST00000340888.3_Silent_p.T175T	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	175	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATATCCAGGGGTCCCACAGG	0.602000													59	10					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111615997	111615997	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:111615997G>A	ENST00000261486.5	-	3	504	c.228C>T	c.(226-228)acC>acT	p.T76T		NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	76	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)		GTTCAGCAAGGGTTTTTGCAG	0.358000													26	196					0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74750093	74750093	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:74750093G>A	ENST00000404568.3	-	7	1412	c.1193C>T	c.(1192-1194)cCa>cTa	p.P398L	DQX1_ENST00000393951.2_Missense_Mutation_p.P398L	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	398	Helicase C-terminal.					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						TGGCAATGGTGGAGCTTCTAG	0.502000													42	64					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179498021	179498021	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179498021C>T	ENST00000589042.1	-	233	43203	c.42979G>A	c.(42979-42981)Gga>Aga	p.G14327R	TTN_ENST00000591111.1_Missense_Mutation_p.G12686R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G5262R|TTN_ENST00000342175.6_Missense_Mutation_p.G5454R|TTN_ENST00000342992.6_Missense_Mutation_p.G11759R|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G5387R|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12686							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)			ACCTCTACTCCGTACAGAGGC	0.408000													55	74					0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95494522	95494522	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:95494522C>T	ENST00000317968.4	+	4	405	c.269C>T	c.(268-270)cCt>cTt	p.P90L	PDLIM5_ENST00000508216.1_Missense_Mutation_p.P90L|PDLIM5_ENST00000538141.1_Missense_Mutation_p.P90L|PDLIM5_ENST00000318007.5_Missense_Mutation_p.P90L|PDLIM5_ENST00000514743.1_Missense_Mutation_p.P90L|PDLIM5_ENST00000437932.1_Missense_Mutation_p.P90L|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000450793.1_Missense_Mutation_p.P90L|PDLIM5_ENST00000380180.3_Missense_Mutation_p.P90L	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	90					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GCACCCAAGCCTGAGCCGGTT	0.368000													31	38					0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59560639	59560639	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:59560639G>A	ENST00000393853.4	+	9	1566	c.1403G>A	c.(1402-1404)gGa>gAa	p.G468E	TBX4_ENST00000240335.1_Missense_Mutation_p.G467E|TBX4_ENST00000589449.1_3'UTR			P57082	TBX4_HUMAN	T-box 4	467					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						CAGCCACCAGGAAATGCCCAC	0.647000													32	58					0	0	1	0	0
PRSS21	10942	broad.mit.edu	37	16	2871483	2871483	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:2871483C>T	ENST00000455114.1	+	6	922	c.816C>T	c.(814-816)atC>atT	p.I272I	PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000450020.3_Silent_p.I260I|PRSS21_ENST00000005995.3_Silent_p.I274I	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	274	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						ACACCAATATCAGCCACCACT	0.577000													9	21					0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156436587	156436587	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:156436587G>A	ENST00000392741.2	+	1	103		c.e1+1		RNF32_ENST00000392740.1_Splice_Site|RNF32_ENST00000432459.2_Splice_Site|RNF32_ENST00000311822.8_Splice_Site|RNF32_ENST00000317955.5_Splice_Site|RNF32_ENST00000405335.1_Splice_Site|RNF32_ENST00000392743.2_Splice_Site|RNF32_ENST00000343665.4_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)		AAAAAATAAGGTACGCTATTC	0.338000													31	59					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2813245	2813245	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:2813245C>T	ENST00000602557.1	-	65	10418	c.9863G>A	c.(9862-9864)aGa>aAa	p.R3288K	CSMD1_ENST00000602723.1_Missense_Mutation_p.R3111K|CSMD1_ENST00000542608.1_Missense_Mutation_p.R3110K|CSMD1_ENST00000537824.1_Missense_Mutation_p.R3287K|CSMD1_ENST00000400186.3_Missense_Mutation_p.R3111K|CSMD1_ENST00000520002.1_Missense_Mutation_p.R3288K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3288	Sushi 28.					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)		ATCGATGGCTCTCACATCCGC	0.483000													17	100					0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42600307	42600307	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:42600307G>A	ENST00000389341.5	-	8	608	c.542C>T	c.(541-543)cCc>cTc	p.P181L	POU2F2_ENST00000529067.1_Missense_Mutation_p.P181L|POU2F2_ENST00000529952.1_Missense_Mutation_p.P197L|POU2F2_ENST00000526816.2_Missense_Mutation_p.P197L|POU2F2_ENST00000560558.1_Missense_Mutation_p.P142L|POU2F2_ENST00000560398.1_Missense_Mutation_p.P203L|POU2F2_ENST00000533720.1_Missense_Mutation_p.P181L|POU2F2_ENST00000342301.4_Missense_Mutation_p.P197L	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	197					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CAGATCACTGGGCTCCTCGGG	0.682000													14	13					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141777573	141777573	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:141777573C>T	ENST00000389484.3	-	12	2859	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	630					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)		GAAGCTTTTTCCAGCCTGGCC	0.428000										TSP Lung(27;0.18)			39	50					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60773233	60773233	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:60773233G>A	ENST00000335712.6	-	2	485	c.258C>T	c.(256-258)tcC>tcT	p.S86S	BCL11A_ENST00000359629.5_Silent_p.S86S|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.S86S|BCL11A_ENST00000358510.4_Silent_p.S86S|BCL11A_ENST00000356842.4_Silent_p.S86S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	86	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				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	p.S86S(3)		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)			TTGGTGAAGGGGAAGGTGGCT	0.463000			T	IGH@	B-CLL								18	59					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551470	99551470	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:99551470G>A	ENST00000373034.4	-	6	4927	c.3252C>T	c.(3250-3252)acC>acT	p.T1084T	PCDH19_ENST00000255531.7_Silent_p.T1037T|PCDH19_ENST00000420881.2_Silent_p.T1036T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1084					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						CCAGGGCAATGGTGTAAGACA	0.587000													38	9					0	0	1	0	0
OR4F17	81099	broad.mit.edu	37	19	110712	110712	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:110712G>A	ENST00000585993.1	+	2	173	c.34G>A	c.(34-36)Gat>Aat	p.D12N	OR4F17_ENST00000318050.3_Missense_Mutation_p.D12N			Q8NGA8	O4F17_HUMAN	olfactory receptor, family 4, subfamily F, member 17	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		GGGTCTCTCTGATTCTCAGGG	0.388000													104	777					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877634	24877634	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:24877634G>A	ENST00000382554.3	+	3	1076	c.758G>A	c.(757-759)aGg>aAg	p.R253K		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	253					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTCCAGAACAGGGGCCCAGAA	0.592000													22	28					0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19553358	19553358	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:19553358G>A	ENST00000536433.1	-	1	3319	c.209C>T	c.(208-210)tCc>tTc	p.S70F	OSR1_ENST00000272223.2_Missense_Mutation_p.S70F			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	70					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CGGCACTTTGGAGAAAGAAGA	0.612000													8	32					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564590	66564590	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:66564590G>A	ENST00000360242.5	+	6	1305	c.1188G>A	c.(1186-1188)aaG>aaA	p.K396K	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Silent_p.K396K|CCDC102B_ENST00000358653.5_Silent_p.K396K|CCDC102B_ENST00000319445.6_Silent_p.K396K	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	396										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)				TTTTGGATAAGAAAAATAGAT	0.393000													78	186					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26968909	26968909	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:26968909G>A	ENST00000528896.2	-	7	838	c.764C>T	c.(763-765)tCa>tTa	p.S255L	KIAA0100_ENST00000389003.3_Missense_Mutation_p.S112L|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S112L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	255						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)					GGCTTTACCTGAACAGGGAAC	0.493000													8	81					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683799	6683799	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:6683799C>T	ENST00000321535.4	+	2	742	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	204										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						AGGACTATTTCAGCCATCACC	0.502000													37	52					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056776	9056776	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9056776G>A	ENST00000397910.4	-	3	30873	c.30670C>T	c.(30670-30672)Cca>Tca	p.P10224S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10226	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						ATGTCCACTGGAATTTCAGTA	0.458000													27	33					0	0	1	0	0
TRBV20-1	28567	broad.mit.edu	37	7	142334237	142334237	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:142334237G>A	ENST00000390394.3	+	0	75																											GGCCATCACGGAAGATGCTGC	0.572000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	14					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258636	25258636	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:25258636G>A	ENST00000328086.7	-	5	1684	c.881C>T	c.(880-882)tCc>tTc	p.S294F		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	294	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CTTGTTAGAGGAATGCAGACC	0.428000													30	55					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38644855	38644855	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:38644855C>T	ENST00000254051.6	-	3	964	c.806G>A	c.(805-807)aGc>aAc	p.S269N		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	269	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)			AGAGATCCTGCTGCCCCGCTG	0.592000													53	70					0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80543936	80543936	+	Missense_Mutation	SNP	C	C	T	rs138822262	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:80543936C>T	ENST00000335255.5	+	7	1610	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	479					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)			CAGATCCCAGCGGTGTCGGTC	0.652000													4	34					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898146	175898146	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:175898146G>A	ENST00000359240.3	+	5	2140	c.1470G>A	c.(1468-1470)agG>agA	p.R490R	ADAM29_ENST00000445694.1_Silent_p.R490R|ADAM29_ENST00000404450.4_Silent_p.R490R|ADAM29_ENST00000514159.1_Silent_p.R490R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	490	Cys-rich.				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)		GTAAGGAGAGGGGCTACTGCT	0.453000													63	84					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48800297	48800297	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:48800297G>A	ENST00000315396.7	-	14	2631	c.1949C>T	c.(1948-1950)tCc>tTc	p.S650F		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	650	Ser-rich.									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)		GCCGGTGCTGGAGACGTGGTC	0.692000													21	30					0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213787	3213787	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:3213787C>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							TCCACAGCCCCATGTACTTCT	0.527000													37	48					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151259209	151259209	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:151259209A>T	ENST00000368879.2	+	2	540	c.442A>T	c.(442-444)Acc>Tcc	p.T148S		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	148	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	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)			CAGTGGGGGCACCTGGAAAGA	0.587000													56	43					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65175550	65175550	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:65175550C>T	ENST00000381210.3	-	6	761	c.651G>A	c.(649-651)ttG>ttA	p.L217L	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Silent_p.L217L	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	217					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						TCACCATTATCAAATTTTTCA	0.338000													45	74					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177250208	177250208	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:177250208G>A	ENST00000361539.4	+	8	2208	c.1896G>A	c.(1894-1896)ggG>ggA	p.G632G	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		632						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						TCACCTTGGGGAATAGGTGGA	0.502000													59	28					0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37665691	37665691	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:37665691G>A	ENST00000378588.4	+	11	1433	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N	CYBB_ENST00000536160.1_Missense_Mutation_p.D189N|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.D424N	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	456					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GTGGTTTGCAGATCTGCTGCA	0.507000													29	6					0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116202393	116202393	+	Splice_Site	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:116202393A>G	ENST00000355485.2	+	3	474	c.204_splice	c.e3+1	p.Q68_splice	VANGL1_ENST00000369509.1_Splice_Site_p.Q68_splice|VANGL1_ENST00000369510.3_Intron|VANGL1_ENST00000310260.3_Splice_Site_p.Q68_splice	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	68					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)		GAGGAAGTTCAGGTAAGGATC	0.458000													33	99					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70884537	70884537	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:70884537G>A	ENST00000393567.2	-	74	12615	c.12465C>T	c.(12463-12465)ttC>ttT	p.F4155F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4155										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)				GCTTTGGTGTGAAGAAAATAT	0.403000													28	31					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160059207	160059207	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:160059207C>T	ENST00000327245.5	-	13	2395	c.1549G>A	c.(1549-1551)Ggc>Agc	p.G517S	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	517					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)			CGGTAGTGGCCCTGGATGGGC	0.572000													27	35					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614950	3614950	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:3614950C>T	ENST00000301749.7	-	0	493				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_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						GCCAGCAGATCCATGAGGGCT	0.692000													9	13					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825509	26825509	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:26825509G>A	ENST00000541819.2	-	7	909	c.807C>T	c.(805-807)atC>atT	p.I269I	GABRB3_ENST00000400188.3_Silent_p.I142I|GABRB3_ENST00000545868.1_Silent_p.I128I|GABRB3_ENST00000299267.4_Silent_p.I213I|GABRB3_ENST00000311550.5_Silent_p.I213I			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	213					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			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGTGCTCCACGATGGAGAACT	0.567000													44	53					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356859	55356859	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55356859C>T	ENST00000524622.1	-	7	1070	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	TESPA1_ENST00000531122.1_Missense_Mutation_p.E137K|TESPA1_ENST00000532804.1_Missense_Mutation_p.E137K|TESPA1_ENST00000449076.1_Missense_Mutation_p.E275K|TESPA1_ENST00000316577.8_Missense_Mutation_p.E275K	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	275																	GACTGGGGTTCAGGCTCTCGG	0.552000													22	29					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936603	30936603	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:30936603G>A	ENST00000355537.3	+	2	2281	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAGTGCCCAGGAGGACAGCCC	0.677000													16	28					0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63283826	63283826	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:63283826G>A	ENST00000415491.2	+	8	1403	c.789G>A	c.(787-789)cgG>cgA	p.R263R	LGALS12_ENST00000425950.2_Silent_p.R254R|LGALS12_ENST00000255684.5_Silent_p.R315R|LGALS12_ENST00000394618.3_Silent_p.R324R|LGALS12_ENST00000340246.5_Silent_p.R325R	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	324	Galectin 2.				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						GGGAGCTCCGGATCAGTGGAA	0.627000													20	34					0	0	1	0	0
IFT74	80173	broad.mit.edu	37	9	26961971	26961971	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:26961971C>T	ENST00000443698.1	+	2	177	c.6C>T	c.(4-6)gcC>gcT	p.A2A	IFT74_ENST00000429045.2_Silent_p.A2A|IFT74_ENST00000380062.5_Silent_p.A2A|IFT74_ENST00000433700.1_Silent_p.A2A	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	2						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AAACAATGGCCAGCAATCACA	0.428000													32	14					0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14705449	14705449	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:14705449G>A	ENST00000547437.1	+	6	393	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	CLEC17A_ENST00000417570.1_Missense_Mutation_p.E106K|CLEC17A_ENST00000397439.2_Missense_Mutation_p.E89K	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	106						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										CTCAGCAAAGGAAACAGAGAA	0.582000													20	34					0	0	1	0	0
POLR1C	9533	broad.mit.edu	37	6	43484868	43484868	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:43484868G>A	ENST00000372389.3	+	1	109	c.21G>A	c.(19-21)gtG>gtA	p.V7V	POLR1C_ENST00000372344.2_Silent_p.V7V|POLR1C_ENST00000304004.3_Silent_p.V7V	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	7					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 dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CTCAGGCGGTGGAGGAAATGC	0.607000													45	116					0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25263070	25263070	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:25263070G>A	ENST00000354189.5	-	15	2093	c.2058C>T	c.(2056-2058)gtC>gtT	p.V686V	CASC1_ENST00000537577.1_Silent_p.V510V|CASC1_ENST00000395987.3_Silent_p.V628V|CASC1_ENST00000545133.1_Silent_p.V563V|CASC1_ENST00000395990.2_Silent_p.V582V|CASC1_ENST00000320267.9_Silent_p.V622V	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	622										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)			CCTTAAATACGACTTTTGTAG	0.378000													22	47					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309347	248309347	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248309347G>A	ENST00000366476.1	+	1	898	c.898G>A	c.(898-900)Gca>Aca	p.A300T		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	300					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)			GGTGACCAGAGCACTCAGGAA	0.463000													35	115					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331726	107331726	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:107331726C>T	ENST00000335040.1	+	1	278	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AAAAAGGTTTCCTTCTCTGGG	0.468000													60	87					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385622	33385622	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:33385622G>A	ENST00000541274.1	-	5	822	c.373C>T	c.(373-375)Cct>Tct	p.P125S	AQP7_ENST00000539936.1_Silent_p.F256F|AQP7_ENST00000537089.1_Silent_p.F164F|AQP7_ENST00000377425.4_Intron			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)		AAACTCAAAGGAATGGGCCTG	0.627000													9	62					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94152932	94152932	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:94152932G>A	ENST00000553484.1	+	45	7171	c.7017G>A	c.(7015-7017)gcG>gcA	p.A2339A	UNC79_ENST00000555664.1_Silent_p.A2278A|UNC79_ENST00000256339.4_Silent_p.A2140A|UNC79_ENST00000393151.2_Silent_p.A2317A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2317						integral to membrane		p.A2339A(1)|p.A2140A(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						GGACTGCAGCGATGGAGTGTG	0.507000													21	6					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72063265	72063265	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:72063265G>A	ENST00000305425.4	-	7	2014	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	DACH1_ENST00000313174.7_Missense_Mutation_p.S383F|DACH1_ENST00000359684.2_Missense_Mutation_p.S583F|DACH1_ENST00000354591.4_Missense_Mutation_p.S329F	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	581					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GGTTGGTGTAGAAAGCGGGGT	0.443000													92	182					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58388327	58388327	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:58388327G>A	ENST00000435989.2	-	2	354	c.120C>T	c.(118-120)taC>taT	p.Y40Y	ZNF814_ENST00000597832.1_Silent_p.Y40Y|ZNF814_ENST00000600634.1_Silent_p.Y40Y|ZNF814_ENST00000597342.1_Silent_p.Y69Y|ZNF814_ENST00000596604.1_Silent_p.Y40Y|CTD-2583A14.9_ENST00000602124.1_3'UTR|ZNF814_ENST00000597807.1_Silent_p.Y40Y|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	40	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCACATCACGGTACAGGCATC	0.488000													50	69					0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136873274	136873274	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:136873274T>A	ENST00000409817.1	-	1	539	c.236A>T	c.(235-237)aAg>aTg	p.K79M	CXCR4_ENST00000241393.3_Missense_Mutation_p.K75M|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	75					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			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)	CAGCCTGTACTTGTCCGTCAT	0.512000													56	62					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38948817	38948817	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:38948817C>T	ENST00000355481.4	+	18	2183	c.2052C>T	c.(2050-2052)ggC>ggT	p.G684G	RYR1_ENST00000360985.3_Silent_p.G684G|RYR1_ENST00000359596.3_Silent_p.G684G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	684	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)	TGCGGGTGGGCTGGGCCCTCA	0.637000													40	59					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42336556	42336556	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:42336556G>A	ENST00000262418.6	-	9	1006	c.851C>T	c.(850-852)gCt>gTt	p.A284V	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	284					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)		GGTGGCAGCAGCCCGGCCAAG	0.647000													26	24					0	0	1	0	0
CYTL1	54360	broad.mit.edu	37	4	5016889	5016889	+	Missense_Mutation	SNP	G	G	A	rs137887145	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:5016889G>A	ENST00000307746.4	-	4	426	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	134					signal transduction	extracellular space|soluble fraction	receptor binding			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TAGCGCTGACGATCTGGCAGG	0.488000													11	26					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21065813	21065813	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:21065813G>A	ENST00000261383.3	-	28	3966	c.3967C>T	c.(3967-3969)Cag>Tag	p.Q1323*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.Q1323*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1323	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)		CGCACCAGCTGGACAATCTGC	0.552000													24	34					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58124041	58124041	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:58124041G>A	ENST00000357272.4	+	29	5059	c.4894G>A	c.(4894-4896)Gaa>Aaa	p.E1632K	FLNB_ENST00000419752.2_Missense_Mutation_p.E1463K|FLNB_ENST00000493452.1_Missense_Mutation_p.E1463K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1663K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1632K|FLNB_ENST00000295956.4_Missense_Mutation_p.E1632K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1632K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1632K			O75369	FLNB_HUMAN	filamin B, beta	1632					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)		GAAAACTGGCGAAGAAGTAGG	0.537000													45	55					0	0	1	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142197742	142197742	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:142197742C>T	ENST00000471935.1	-	0	235																											GGGCCCTGTCCCAGGATCTGC	0.463000													33	39					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221595	5221595	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5221595G>A	ENST00000321255.1	-	1	335	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACCATGGATGAAATAGGACT	0.512000													35	36					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595520	179595520	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179595520C>T	ENST00000589042.1	-	61	17965		c.e61-1		TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000359218.5_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)			ATGATAAGATCTATTCAATGA	0.318000													48	64					0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33272092	33272092	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:33272092G>A	ENST00000373477.4	-	4	1409	c.501C>T	c.(499-501)ccC>ccT	p.P167P		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	167					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CCTGCAGTCCGGGGTATAAGA	0.527000													86	176					0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28841302	28841302	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:28841302C>T	ENST00000399613.1	+	10	1107	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	PAN3_ENST00000380958.3_Silent_p.I548I|PAN3_ENST00000282391.5_Silent_p.I236I			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	548	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)		ACTCAAATATCGTAACTTTGC	0.388000													61	64					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227896736	227896736	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:227896736C>T	ENST00000396625.3	-	40	3949	c.3742G>A	c.(3742-3744)Gga>Aga	p.G1248R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1248R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1248	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)		GGAGCTCTTCCTGTGGCACCT	0.493000													22	33					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156884534	156884534	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:156884534G>A	ENST00000338302.3	+	24	3283	c.3058G>A	c.(3058-3060)Gac>Aac	p.D1020N	PEAR1_ENST00000292357.7_Missense_Mutation_p.D1020N			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	1020	Pro-rich.					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)					TGGACATTATGACTTGCCTCC	0.627000													38	84					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28260046	28260046	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:28260046G>A	ENST00000354638.3	-	9	1075	c.920C>T	c.(919-921)tCc>tTc	p.S307F	OCA2_ENST00000353809.5_Missense_Mutation_p.S307F|OCA2_ENST00000382996.2_Missense_Mutation_p.S307F	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	307					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CTGCTGCAGGGAGGCCCGGAT	0.577000									Oculocutaneous Albinism				14	26					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1270665	1270665	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:1270665G>A	ENST00000447027.1	+	31	12622	c.12564G>A	c.(12562-12564)ggG>ggA	p.G4188G	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.G4185G			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4185	7 X Cys-rich subdomain repeats.|Thr-rich.				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)		TCCCCCTGGGGGAGTTGGGCC	0.632000													42	72					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101505376	101505376	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:101505376C>T	ENST00000392979.3	+	23	2594	c.2233C>T	c.(2233-2235)Ctc>Ttc	p.L745F	ANO4_ENST00000392977.3_Missense_Mutation_p.L780F|ANO4_ENST00000299222.9_Missense_Mutation_p.L300F|ANO4_ENST00000550015.1_Missense_Mutation_p.L300F	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	780						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						CATTGGAATTCTCTCTGTTAT	0.368000										HNSCC(74;0.22)			22	38					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179477564	179477564	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179477564C>T	ENST00000589042.1	-	265	50108	c.49884G>A	c.(49882-49884)gtG>gtA	p.V16628V	TTN_ENST00000591111.1_Silent_p.V14987V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Silent_p.V7563V|TTN_ENST00000342175.6_Silent_p.V7755V|TTN_ENST00000342992.6_Silent_p.V14060V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.V7688V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14987							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)			CAGCCTTATTCACAGCTCTAA	0.512000													15	29					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25442614	25442614	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:25442614G>A	ENST00000424208.1	+	0	1590				SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						CTGGTAATCTGAAGCTCAGGC	0.607000													45	68					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11001114	11001114	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:11001114G>A	ENST00000324288.8	+	11	1898	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	589	NACHT.				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						AGGGATGACAGAGCACCAAGA	0.607000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								13	29					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58055999	58055999	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:58055999G>A	ENST00000556826.1	-	3	758	c.522C>T	c.(520-522)ttC>ttT	p.F174F	SLC35F4_ENST00000339762.6_Silent_p.F210F|SLC35F4_ENST00000554729.1_Silent_p.F51F	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						AATAGACTGGGAAAAACATAA	0.348000													8	42					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34401380	34401380	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:34401380G>A	ENST00000373381.4	-	4	869	c.693C>T	c.(691-693)ttC>ttT	p.F231F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	191	CUB 2.					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)				AAGGCAGGGGGAAGTCCCACG	0.627000													52	40					0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7949304	7949304	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:7949304C>T	ENST00000309838.2	-	1	905	c.906G>A	c.(904-906)atG>atA	p.M302I		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	302					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)		GCCATAATTTCATCAAAGCCC	0.383000													44	53					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230401076	230401076	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:230401076T>C	ENST00000366672.4	+	14	1475	c.1403T>C	c.(1402-1404)gTt>gCt	p.V468A	GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000541865.1_3'UTR|GALNT2_ENST00000543760.1_Missense_Mutation_p.V430A	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	468	Ricin B-type lectin.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GATGGTGTGGTTGGAGTTTAT	0.532000													75	261					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120385353	120385353	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:120385353C>T	ENST00000602047.1	+	17	1895	c.783C>T	c.(781-783)tcC>tcT	p.S261S	PCDP1_ENST00000413369.3_Silent_p.S547S			Q4G0U5	PCDP1_HUMAN		547						cilium	calmodulin binding					Colorectal(110;0.196)					CCCAGGACTCCAACGAGTTGG	0.592000													32	50					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41559170	41559170	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:41559170G>A	ENST00000400454.1	-	14	3144	c.2667C>T	c.(2665-2667)ccC>ccT	p.P889P		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	889	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)				TCTCAATTTCGGGAGGGTCTG	0.478000													15	26					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174334	63174334	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:63174334G>A	ENST00000322893.7	-	11	3127	c.2859C>T	c.(2857-2859)ccC>ccT	p.P953P	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	953					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)		TTTGGGATTTGGGAGATGAGG	0.463000													29	57					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117706913	117706913	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:117706913G>A	ENST00000368508.3	-	15	2435	c.2237C>T	c.(2236-2238)gCa>gTa	p.A746V	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.A741V	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	746					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)		CCCTGCTCCTGCAATGCTGGG	0.478000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								35	57					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651459	1651459	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:1651459G>A	ENST00000399676.2	+	1	427	c.389G>A	c.(388-390)gGc>gAc	p.G130D		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	130	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGGGCTGTGGCTCCTGTGGG	0.692000													11	26					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18669075	18669075	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:18669075C>T	ENST00000406451.3	+	7	908	c.758C>T	c.(757-759)tCa>tTa	p.S253L	HDAC9_ENST00000441542.2_Missense_Mutation_p.S256L|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000432645.2_Missense_Mutation_p.S253L|HDAC9_ENST00000456174.2_Missense_Mutation_p.S225L|HDAC9_ENST00000405010.3_Missense_Mutation_p.S253L|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000428307.2_Intron	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	253	Interaction with ETV6.|Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	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)	GTTGTCACTTCATTCAAGAAG	0.438000													13	19					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115351989	115351989	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:115351989G>A	ENST00000369358.4	-	39	4876	c.4632C>T	c.(4630-4632)ttC>ttT	p.F1544F	NRAP_ENST00000360478.3_Silent_p.F1501F|NRAP_ENST00000369360.3_Silent_p.F1509F|NRAP_ENST00000359988.3_Silent_p.F1536F			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1536						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)		GGGCAGTCTGGAAGGGGATGG	0.507000													21	30					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101592900	101592900	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:101592900A>G	ENST00000310954.6	-	8	1674	c.1388T>C	c.(1387-1389)gTt>gCt	p.V463A		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	463					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)		CGTAAGTGCAACTCCAGATGT	0.378000													28	35					0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55912144	55912144	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:55912144G>A	ENST00000447944.2	-	4	423	c.337C>T	c.(337-339)Ccc>Tcc	p.P113S		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	113					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAGTTTGTGGGAATTCTACCT	0.338000													24	25					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117248363	117248363	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:117248363C>T	ENST00000332958.2	+	17	2075	c.2059C>T	c.(2059-2061)Ccc>Tcc	p.P687S		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	687					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						GCCCATTTATCCCACTCTCCC	0.522000													62	79					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73745107	73745107	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:73745107C>T	ENST00000200181.3	+	27	3484	c.3297C>T	c.(3295-3297)acC>acT	p.T1099T	ITGB4_ENST00000449880.2_Silent_p.T1099T|ITGB4_ENST00000450894.3_Silent_p.T1099T|ITGB4_ENST00000579662.1_Silent_p.T1099T|ITGB4_ENST00000339591.3_Silent_p.T1099T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1099					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)			ACTCCACCACCATCATCATCA	0.627000													6	15					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270136	36270136	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:36270136C>T	ENST00000394571.2	+	6	1274	c.1274C>T	c.(1273-1275)cCa>cTa	p.P425L	PNPLA1_ENST00000312917.5_Missense_Mutation_p.P339L|PNPLA1_ENST00000388715.3_Missense_Mutation_p.P330L	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	425	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TCACCCAGGCCATCCCTGGGG	0.592000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	145					0	0	1	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172585282	172585282	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:172585282C>T	ENST00000534253.2	+	14	1481	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	DYNC1I2_ENST00000409453.1_Missense_Mutation_p.S438F|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.S430F|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.S412F|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.S438F|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.S412F|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.S430F|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.S438F|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.S412F|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.S432F|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.S432F			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	438					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)			ACATCTATGTCCTTCCCTGTT	0.408000													12	14					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84738853	84738853	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:84738853C>T	ENST00000372142.2	+	9	1171	c.897C>T	c.(895-897)gaC>gaT	p.D299D	NRG3_ENST00000545131.1_Silent_p.D170D|NRG3_ENST00000537893.1_Silent_p.D170D|NRG3_ENST00000404547.1_Silent_p.D520D|NRG3_ENST00000556918.1_Silent_p.D350D|NRG3_ENST00000404576.2_Silent_p.D324D|NRG3_ENST00000372141.2_Silent_p.D520D	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	520	EGF-like.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGATCCCAGACCAGGATACGA	0.463000													9	26					0	0	1	0	0
ZNF383	163087	broad.mit.edu	37	19	37734219	37734219	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:37734219A>T	ENST00000589413.1	+	8	1664	c.1081A>T	c.(1081-1083)Act>Tct	p.T361S	ZNF383_ENST00000590503.1_Missense_Mutation_p.T361S|ZNF383_ENST00000352998.3_Missense_Mutation_p.T361S			Q8NA42	ZN383_HUMAN	zinc finger protein 383	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAATTCACACTGGTGAGAA	0.433000													31	42					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364610	5364610	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5364610C>T	ENST00000300773.2	-	1	199	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGTGATCTTCCTTAATGAGA	0.498000													31	41					0	0	1	0	0
LY86	9450	broad.mit.edu	37	6	6625170	6625170	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:6625170G>A	ENST00000379953.2	+	3	500	c.148G>A	c.(148-150)Gat>Aat	p.D50N	LY86_ENST00000230568.4_Missense_Mutation_p.D50N			O95711	LY86_HUMAN	lymphocyte antigen 86	50					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TCCATTACAAGATTTTGGCTT	0.279000													6	31					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58439317	58439317	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:58439317G>A	ENST00000396147.1	-	4	523	c.232C>T	c.(232-234)Ccc>Tcc	p.P78S	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_5'UTR|ZNF418_ENST00000425570.3_Missense_Mutation_p.P99S|ZNF418_ENST00000595830.1_Missense_Mutation_p.P78S	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	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;0.0158)		GCCTTCTTGGGAGACACACCT	0.502000													39	49					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895386	42895386	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:42895386G>A	ENST00000399770.2	+	1	103	c.103G>A	c.(103-105)Gat>Aat	p.D35N		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	35					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						AGTGTATGAAGATGGGCAACC	0.517000													85	108					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198106	170198106	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:170198106C>T	ENST00000231706.4	-	7	2280	c.1965G>A	c.(1963-1965)tgG>tgA	p.W655*	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	655						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)			CAAACCGGATCCATGTGATGG	0.498000													54	80					0	0	1	0	0
FBRS	64319	broad.mit.edu	37	16	30676391	30676391	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:30676391C>T	ENST00000356166.6	+	9	2687	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	FBRS_ENST00000287468.5_Silent_p.F13F|FBRS_ENST00000395073.2_5'UTR|FBRS_ENST00000568722.1_Intron			Q9HAH7	FBRS_HUMAN	fibrosin	13										ovary(1)	1			Colorectal(24;0.103)			AAGGCCTTTTCCGACATAAtg	0.557000													4	12					0	0	1	0	0
POFUT2	23275	broad.mit.edu	37	21	46705812	46705812	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:46705812C>T	ENST00000331343.7	-	2	189	c.163G>A	c.(163-165)Ggc>Agc	p.G55S	POFUT2_ENST00000349485.5_Missense_Mutation_p.G55S	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	55					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)		AGGTTGAAGCCTTCCGGGGGG	0.567000													56	77					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113353855	113353855	+	Missense_Mutation	SNP	C	C	T	rs139554725	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:113353855C>T	ENST00000297405.5	-	42	6747	c.6503G>A	c.(6502-6504)cGa>cAa	p.R2168Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.R2098Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2128Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2064Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2168	CUB 12.					integral to membrane|plasma membrane		p.R2168Q(1)|p.R2128Q(1)		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						GGATCCACTTCGTACTTCCAA	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	44					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708317	126708317	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:126708317C>T	ENST00000393409.2	+	1	881	c.881C>T	c.(880-882)tCg>tTg	p.S294L	PLXNA1_ENST00000251772.4_Missense_Mutation_p.S271L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	294	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AAATTCTACTCGTACGTTGAG	0.642000													31	194					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40958182	40958182	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:40958182G>A	ENST00000313164.9	+	11	1667	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	436	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTGCCTCTGTGAAAAAACTAT	0.408000													15	31					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397891	111397891	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:111397891G>A	ENST00000265162.5	+	1	663	c.321G>A	c.(319-321)aaG>aaA	p.K107K		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	107					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)	TGCACGTGAAGCCCCTGTTGG	0.612000													63	96					0	0	1	0	0
ZNF788	388507	broad.mit.edu	37	19	12223031	12223031	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:12223031C>T	ENST00000339302.4	+	3	1306	c.669C>T	c.(667-669)ccC>ccT	p.P223P	ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000430298.2_3'UTR					zinc finger family member 788											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						GGGAGAAACCCTATGAATGTA	0.428000													6	11					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092805	147092805	+	Missense_Mutation	SNP	G	G	A	rs76475298	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:147092805G>A	ENST00000361727.3	+	10	2119	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	535	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)			AAATTTATACGAAGTGGCACA	0.438000										HNSCC(39;0.1)			75	106					0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322418	5322418	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5322418C>T	ENST00000380224.1	-	1	808	c.759G>A	c.(757-759)atG>atA	p.M253I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	253					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)		ATGACAGTCCCATCACAGTGA	0.448000													31	47					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130872849	130872849	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:130872849G>A	ENST00000357462.5	-	2	667	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L	POTEF_ENST00000409914.2_Silent_p.L192L|POTEF_ENST00000361163.4_Silent_p.L192L|POTEF_ENST00000360967.5_Silent_p.L192L			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	192						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						CTGTCCAGCAGGAGTTTTACT	0.428000													15	106					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874944	20874944	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:20874944C>T	ENST00000381552.1	+	8	1350	c.982C>T	c.(982-984)Ccc>Tcc	p.P328S	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.P210S|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.P279S|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.P328S|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.P328S			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	328					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.P328S(1)		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)					CTACCAAACACCCCAGGGAGA	0.348000													23	36					0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54636770	54636770	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:54636770T>A	ENST00000407838.3	+	5	1109	c.703T>A	c.(703-705)Ttg>Atg	p.L235M	VSTM2A_ENST00000402613.3_Intron|GS1-18A18.1_ENST00000456049.1_RNA|VSTM2A_ENST00000404951.1_Intron|VSTM2A_ENST00000498834.1_Intron	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	235						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GAAGGGTGCTTTGCTTTAATC	0.423000													6	8					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16001120	16001120	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:16001120C>T	ENST00000350896.3	-	8	1177	c.979_splice	c.e8-1	p.G327_splice	MSR1_ENST00000445506.2_Splice_Site_p.G345_splice|MSR1_ENST00000381998.4_Splice_Site_p.G327_splice|MSR1_ENST00000536385.1_Splice_Site_p.G101_splice|MSR1_ENST00000355282.2_Splice_Site_p.G327_splice|MSR1_ENST00000262101.5_Splice_Site_p.G327_splice	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	354	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)		TCCAGAATTTCCTTGAGAAAA	0.313000													22	36					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19316928	19316928	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:19316928C>T	ENST00000461366.1	+	6	974	c.759C>T	c.(757-759)agC>agT	p.S253S		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	253							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						ATGCCATGAGCCCTGAGCTGA	0.607000													4	14					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69445306	69445306	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:69445306T>C	ENST00000337103.4	+	6	2286	c.694T>C	c.(694-696)Ttt>Ctt	p.F232L	C8orf34_ENST00000348340.2_Missense_Mutation_p.F257L|C8orf34_ENST00000518698.1_Missense_Mutation_p.F343L|C8orf34_ENST00000539993.1_Missense_Mutation_p.F257L			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	257					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)			TCAAGATTCTTTTGAGTCCAT	0.368000													49	67					0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	64027383	64027383	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:64027383A>C	ENST00000371088.4	+	11	1598	c.1352A>C	c.(1351-1353)aAt>aCt	p.N451T	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	451							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TAAACAGAGAATTTTGATACA	0.259000													20	45					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94631572	94631572	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:94631572A>T	ENST00000258526.4	+	10	2362	c.2113A>T	c.(2113-2115)Aag>Tag	p.K705*		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	705					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TACCTGTGATAAGGATGTGTG	0.403000													23	36					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179418802	179418802	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179418802C>T	ENST00000589042.1	-	333	89260	c.89036G>A	c.(89035-89037)gGa>gAa	p.G29679E	TTN_ENST00000591111.1_Missense_Mutation_p.G28038E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G20614E|TTN_ENST00000342175.6_Missense_Mutation_p.G20806E|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27111E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20739E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28038	Fibronectin type-III 116.						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)			TTTAAACCATCCTAGGCTCTT	0.408000													57	78					0	0	1	0	0
G2E3	55632	broad.mit.edu	37	14	31084664	31084664	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:31084664C>T	ENST00000206595.6	+	14	1937	c.1783C>T	c.(1783-1785)Ctt>Ttt	p.L595F	G2E3_ENST00000553504.1_Missense_Mutation_p.L625F|G2E3_ENST00000438909.2_Missense_Mutation_p.L549F	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	595	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGCAAAAATCCTTAGTGAGCT	0.388000													41	54					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515291	140515291	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140515291G>A	ENST00000231134.5	+	1	492	c.275G>A	c.(274-276)cGg>cAg	p.R92Q		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		92	Cadherin 1.				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)			AAACTAGACCGGGAGGTGATG	0.463000													49	57					0	0	1	0	0
CENPC	1060	broad.mit.edu	37	4	68409894	68409894	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:68409894T>A	ENST00000273853.6	-	2	288	c.38A>T	c.(37-39)tAc>tTc	p.Y13F		NM_001812.2	NP_001803.2			centromere protein C																		TCTTCTTCTGTAGCCATTTTT	0.289000													3	12					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14015938	14015938	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:14015938C>T	ENST00000311895.7	+	2	267	c.258C>T	c.(256-258)cgC>cgT	p.R86R	ERCC4_ENST00000575156.1_Silent_p.R86R	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	86					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						ACCTCCCTCGCCGTGTAACAA	0.378000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				13	26					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137170	40137170	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:40137170C>T	ENST00000278198.2	-	2	2636	c.673G>A	c.(673-675)Gat>Aat	p.D225N	LRRC4C_ENST00000530763.1_Missense_Mutation_p.D225N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.D225N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.D225N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	225					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)				CCAGAAAGATCCAGCTCATCT	0.458000													35	69					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3611539	3611539	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:3611539G>A	ENST00000602557.1	-	6	1399	c.844C>T	c.(844-846)Cca>Tca	p.P282S	CSMD1_ENST00000602723.1_Missense_Mutation_p.P282S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P282S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P282S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P282S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P282S|CSMD1_ENST00000520002.1_Missense_Mutation_p.P282S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	282	CUB 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)		CTGATAACTGGAGAGGGGAGG	0.458000													8	20					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23862881	23862881	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:23862881C>T	ENST00000405093.3	-	22	2992	c.2922G>A	c.(2920-2922)gaG>gaA	p.E974E	MYH6_ENST00000356287.3_Silent_p.E974E	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	974					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)		TCACCTTGTTCTCTGTTGCAT	0.552000													36	64					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20856071	20856071	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20856071G>A	ENST00000262715.5	-	18	2717	c.2677C>T	c.(2677-2679)Cag>Tag	p.Q893*	TEP1_ENST00000556935.1_Nonsense_Mutation_p.Q785*	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	893					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GACCCTTGCTGGGAAACAGGA	0.547000													30	54					0	0	1	0	0
SCML4	256380	broad.mit.edu	37	6	108041967	108041967	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:108041967G>A	ENST00000369022.2	-	5	948	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369025.2_Silent_p.L63L|SCML4_ENST00000369020.3_Silent_p.L305L|SCML4_ENST00000369021.3_Silent_p.L276L			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGAGGCCTCAGCCCAGGTGCC	0.587000													54	68					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13871819	13871819	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:13871819C>T	ENST00000265104.4	-	23	3556	c.3452G>A	c.(3451-3453)gGa>gAa	p.G1151E	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1151	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)					TTCTTCTTTTCCCTTTTGCCA	0.353000									Kartagener syndrome				28	46					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76451887	76451887	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:76451887G>A	ENST00000389840.5	-	63	10091	c.9967C>T	c.(9967-9969)Cgc>Tgc	p.R3323C	DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000585328.1_Missense_Mutation_p.R3332C					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)			TCAGCCCAGCGGATGTTTTCC	0.552000													9	15					0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137779082	137779082	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:137779082G>A	ENST00000350339.2	+	7	663	c.649G>A	c.(649-651)Gga>Aga	p.G217R	FCN2_ENST00000291744.6_Missense_Mutation_p.G255R	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	255	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TCTTAACACCGGAAATTGTGC	0.498000													52	53					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223286264	223286264	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:223286264T>C	ENST00000540964.1	-	4	571	c.110A>G	c.(109-111)aAc>aGc	p.N37S	TLR5_ENST00000342210.6_Missense_Mutation_p.N37S			O60602	TLR5_HUMAN	toll-like receptor 5	37					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)		CTGGGTGAGGTTGCAGAAACG	0.532000													11	71					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141325150	141325150	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:141325150C>T	ENST00000231484.3	-	4	4561	c.3351G>A	c.(3349-3351)ctG>ctA	p.L1117L		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1117					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)			GCAGCATCTCCAGCAGTGAGC	0.647000													19	39					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94568678	94568678	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:94568678C>T	ENST00000370225.3	-	5	549	c.463G>A	c.(463-465)Gat>Aat	p.D155N	ABCA4_ENST00000535735.1_Missense_Mutation_p.D155N	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	155					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)		TTCAAGATATCCCTTATTCGT	0.408000													36	176					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110487395	110487395	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:110487395G>A	ENST00000378402.5	+	51	8758	c.8654G>A	c.(8653-8655)gGa>gAa	p.G2885E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2885					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)			CATATGTCTGGATGGATGGCT	0.343000										HNSCC(38;0.096)			16	29					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7516115	7516115	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:7516115C>T	ENST00000593531.1	+	9	1127	c.1127C>T	c.(1126-1128)aCc>aTc	p.T376I	ARHGEF18_ENST00000319670.9_Silent_p.Y260Y|ARHGEF18_ENST00000359920.6_Silent_p.Y418Y																							TAACCAAATACCCAGTGCTGG	0.572000													19	31					0	0	1	0	0
IMMT	10989	broad.mit.edu	37	2	86373206	86373206	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:86373206C>T	ENST00000410111.3	-	14	2035	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	IMMT_ENST00000409051.2_Missense_Mutation_p.E503K|IMMT_ENST00000254636.5_Missense_Mutation_p.E451K|IMMT_ENST00000442664.2_Missense_Mutation_p.E549K|IMMT_ENST00000449247.2_Missense_Mutation_p.E539K	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	550						integral to mitochondrial inner membrane	protein binding	p.E550K(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACAGCCTGTTCGATTCCTCTG	0.358000													9	12					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117618239	117618239	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:117618239C>T	ENST00000369466.3	+	5	1077	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	345					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)		GGGTGAGGGCCGTGAAGCTGC	0.592000													21	49					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55684513	55684513	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:55684513C>T	ENST00000370830.3	-	2	1321	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	BMP5_ENST00000446683.2_Missense_Mutation_p.R208Q	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	208					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			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)			ATTTTCAAATCGGTTGTTGCT	0.338000													15	64					0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65373427	65373427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:65373427G>A	ENST00000309100.3	-	7	2214	c.1729C>T	c.(1729-1731)Cag>Tag	p.Q577*	MAP3K11_ENST00000534432.1_5'UTR|MAP3K11_ENST00000530153.1_Nonsense_Mutation_p.Q320*|MAP3K11_ENST00000532507.1_5'UTR	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	577					activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CTCCCATTCTGGGCTTCCCCA	0.617000													10	14					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156816394	156816394	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:156816394C>A	ENST00000368195.3	-	8	2123	c.1727G>T	c.(1726-1728)cGg>cTg	p.R576L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	576	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGTGATGGCCCGCACAAACAC	0.612000													19	46					7.45023e-12	7.52377e-12	1	1	0
HEATR5A	25938	broad.mit.edu	37	14	31782215	31782215	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:31782215A>G	ENST00000543095.2	-	28	4584	c.4400T>C	c.(4399-4401)tTa>tCa	p.L1467S	HEATR5A_ENST00000389961.3_Missense_Mutation_p.L1461S|HEATR5A_ENST00000439727.1_Missense_Mutation_p.L1174S|HEATR5A_ENST00000439348.1_Missense_Mutation_p.L1461S	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1461							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AGGCAAAGTTAAAAGAGCAAA	0.398000													27	37					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702427	179702427	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179702427C>T	ENST00000420890.2	-	23	3636	c.3519G>A	c.(3517-3519)ggG>ggA	p.G1173G	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.G598G	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	598							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)			GTCGCTCTTCCCCTGTTCCAT	0.483000													45	54					0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3029915	3029915	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:3029915G>A	ENST00000328890.2	-	1	960	c.931C>T	c.(931-933)Cat>Tat	p.H311Y		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TAAGGGGAATGAATTTTCCGA	0.423000													37	34					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440224	40440224	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:40440224G>A	ENST00000319592.4	-	4	1396	c.687C>T	c.(685-687)gaC>gaT	p.D229D	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.D191D|RBM47_ENST00000381795.6_Silent_p.D229D|RBM47_ENST00000381793.2_Silent_p.D229D|RBM47_ENST00000295971.7_Silent_p.D229D			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	229	RRM 2.					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						GTTCGGCCCAGTCCACGGCGA	0.637000													42	69					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136582427	136582427	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:136582427C>T	ENST00000531224.1	-	12	2985	c.2733G>A	c.(2731-2733)aaG>aaA	p.K911K	BCLAF1_ENST00000527536.1_Silent_p.K862K|BCLAF1_ENST00000031135.9_Silent_p.K129K|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Silent_p.K860K|BCLAF1_ENST00000527759.1_Silent_p.K909K|BCLAF1_ENST00000530767.1_Silent_p.K738K|BCLAF1_ENST00000353331.4_Silent_p.K860K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	911					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)		GTCTGTCCTTCTTTTCTTCAT	0.348000													24	159					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158514004	158514004	+	Silent	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:158514004A>G	ENST00000355585.4	+	26	3687	c.3612A>G	c.(3610-3612)gaA>gaG	p.E1204E	SYNJ2_ENST00000367122.2_Silent_p.E1159E|SYNJ2_ENST00000367112.1_Silent_p.E289E|SYNJ2_ENST00000367121.3_Silent_p.E1204E	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1204							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)		GGGACCTTGAAGCATCCTCTG	0.597000													30	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430883	179430883	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179430883C>T	ENST00000589042.1	-	326	80200	c.79976G>A	c.(79975-79977)gGa>gAa	p.G26659E	TTN_ENST00000591111.1_Missense_Mutation_p.G25018E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G17594E|TTN_ENST00000342175.6_Missense_Mutation_p.G17786E|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G24091E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G17719E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25018	Fibronectin type-III 94.						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)			AATGTATTTTCCAGCATCATT	0.393000													52	78					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122809260	122809260	+	Silent	SNP	G	G	A	rs111436496		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:122809260G>A	ENST00000194130.2	-	4	534	c.495C>T	c.(493-495)gtC>gtT	p.V165V	SLC13A1_ENST00000539873.1_Silent_p.V101V	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	165						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)	GAGTGGCCTCGACCTCTGCTT	0.498000													14	34					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94480247	94480247	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:94480247C>T	ENST00000370225.3	-	38	5399		c.e38-1		ABCA4_ENST00000536513.1_Splice_Site	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4						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)		GACCGCCCATCTGTGTGAAAT	0.478000													69	165					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093396	30093396	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:30093396C>T	ENST00000567636.1	+	0	1771					NR_003558.1																						CTGGGCTTTTCCCACCAGCTC	0.502000													85	53					0	0	1	0	0
TUBBP1	92755	broad.mit.edu	37	8	30210750	30210750	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:30210750C>T	ENST00000518096.1	+	0	1362																											TGGAGTTCACCGAGGCTGACA	0.572000													14	88					0	0	1	0	0
ZNF225	7768	broad.mit.edu	37	19	44635578	44635578	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:44635578C>T	ENST00000262894.6	+	5	1091	c.811C>T	c.(811-813)Cat>Tat	p.H271Y	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.H271Y	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GGCCTTCATTCATGATTCCCA	0.398000													68	81					0	0	1	0	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36353744	36353744	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:36353744A>C	ENST00000312412.4	-	10	1116	c.1117T>G	c.(1117-1119)Tta>Gta	p.L373V	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.L218V|TBC1D3_ENST00000537432.1_5'UTR																kidney(1)|lung(3)	4						CCTTCATTTAACCAAAGATGA	0.363000													11	72					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56443402	56443402	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:56443402C>T	ENST00000588751.1	-	1	300	c.276G>A	c.(274-276)atG>atA	p.M92I	NLRP13_ENST00000342929.3_Missense_Mutation_p.M92I			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	92	DAPIN.						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)		AGGTCAGATTCATTGTCTGGA	0.507000													28	53					0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51980459	51980459	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:51980459G>A	ENST00000220478.3	+	5	803	c.400G>A	c.(400-402)Gat>Aat	p.D134N	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	134					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		CTGTCTAGATGATCCAGATGG	0.388000													17	34					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123514403	123514403	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	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													50	6					0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242052799	242052799	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:242052799C>T	ENST00000366548.3	+	16	3031	c.2438C>T	c.(2437-2439)cCc>cTc	p.P813L	EXO1_ENST00000348581.5_Missense_Mutation_p.P813L|EXO1_ENST00000518483.1_3'UTR	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	813	Interaction with MLH1.|Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGTAAGAAACCCCTGTCCCCA	0.368000								Editing and processing nucleases					72	64					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169632828	169632828	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:169632828C>T	ENST00000335742.7	+	10	1929	c.572C>T	c.(571-573)tCc>tTc	p.S191F	PALLD_ENST00000505667.1_Missense_Mutation_p.S573F|PALLD_ENST00000512127.1_Missense_Mutation_p.S191F|PALLD_ENST00000261509.6_Missense_Mutation_p.S573F			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	573					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)		GAGACAAGTTCCTTGGAGTTG	0.478000									Pancreatic Cancer, Familial Clustering of				15	42					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039415	11039415	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:11039415C>T	ENST00000470054.1	-	0	788									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)		ATCTGTTTTTCCAATTCGGTA	0.289000													13	205					0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66134957	66134957	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:66134957G>A	ENST00000357440.2	-	7	939	c.711C>T	c.(709-711)acC>acT	p.T237T	SLC29A2_ENST00000546034.1_Silent_p.T237T|SLC29A2_ENST00000544554.1_Silent_p.T237T|SLC29A2_ENST00000311161.7_Silent_p.T237T	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	237					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						GCTCAGCTTTGGTCTCCAGCT	0.582000													48	86					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633522	70633522	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:70633522G>A	ENST00000381269.2	-	2	2371	c.1618C>T	c.(1618-1620)Cat>Tat	p.H540Y	SLC8A3_ENST00000528359.1_Missense_Mutation_p.H540Y|SLC8A3_ENST00000356921.2_Missense_Mutation_p.H540Y|SLC8A3_ENST00000534137.1_Missense_Mutation_p.H540Y|SLC8A3_ENST00000357887.3_Missense_Mutation_p.H540Y	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	540	Calx-beta 2.				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)		TCACTGACATGAATAGTATCA	0.517000													33	16					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6965611	6965611	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:6965611C>T	ENST00000229268.8	+	5	633	c.581C>T	c.(580-582)cCc>cTc	p.P194L	USP5_ENST00000389231.5_Missense_Mutation_p.P194L	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	194					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CGAATCCCTCCCTGGTGAGGC	0.627000													28	55					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16217159	16217159	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:16217159C>T	ENST00000339732.5	+	1	1004	c.501C>T	c.(499-501)atC>atT	p.I167I	GALNT15_ENST00000470031.1_3'UTR|GALNT15_ENST00000437509.1_Silent_p.I167I	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		GTGCCCGCATCCCCCTCCAGA	0.627000													13	25					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244473	46244473	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:46244473C>T	ENST00000334344.6	+	15	2739	c.2567C>T	c.(2566-2568)aCt>aTt	p.T856I	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.T707I|ARID2_ENST00000444670.1_Missense_Mutation_p.T466I	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	856	Gln-rich.				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)		TATGTAACAACTTCTGCATCC	0.448000			"""N, S, F"""		hepatocellular carcinoma								61	89					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98797648	98797648	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:98797648G>A	ENST00000477737.1	+	9	1488	c.1284G>A	c.(1282-1284)ccG>ccA	p.P428P	VWA3B_ENST00000435344.1_Silent_p.P428P|VWA3B_ENST00000451075.2_Silent_p.P278P	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	428										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						AAGCCAAACCGGAGAATGAGT	0.572000													43	48					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87043668	87043668	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:87043668C>T	ENST00000370563.3	+	12	2077	c.2035C>T	c.(2035-2037)Cgg>Tgg	p.R679W	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	679						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.R679W(1)		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)		CTTAAAAGTTCGGGCTCATGG	0.438000													30	29					0	0	1	0	0
NOC4L	79050	broad.mit.edu	37	12	132632324	132632324	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:132632324C>T	ENST00000330579.1	+	5	641	c.600C>T	c.(598-600)ccC>ccT	p.P200P	NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	200					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)		GCCAGCACCCCGAGGTGGGTG	0.687000													4	56					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111090573	111090573	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:111090573G>A	ENST00000262839.2	-	6	2387	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	490					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.S490L(2)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAGACGCAACGAACTTAAAAT	0.463000													46	6					0	0	1	0	0
GRAMD3	65983	broad.mit.edu	37	5	125820208	125820208	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:125820208C>T	ENST00000285689.3	+	10	1423	c.962C>T	c.(961-963)cCt>cTt	p.P321L	GRAMD3_ENST00000544396.1_Missense_Mutation_p.P217L|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000511134.1_Missense_Mutation_p.P305L|GRAMD3_ENST00000542322.1_Missense_Mutation_p.P329L|GRAMD3_ENST00000515200.1_Missense_Mutation_p.P299L|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000543198.1_Missense_Mutation_p.P299L|GRAMD3_ENST00000502348.1_Missense_Mutation_p.P212L|GRAMD3_ENST00000513040.1_Missense_Mutation_p.P336L	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	321										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		AAGAGTCTCCCTGTACAGGGT	0.453000													49	69					0	0	1	0	0
NCAPG	64151	broad.mit.edu	37	4	17839312	17839312	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:17839312C>G	ENST00000251496.2	+	16	2530	c.2354C>G	c.(2353-2355)cCt>cGt	p.P785R		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	785					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GCCAATGCCCCTGCATCTTCT	0.403000													85	123					0	0	1	0	0
ZNF747	65988	broad.mit.edu	37	16	30543869	30543869	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:30543869G>A	ENST00000569360.1	-	3	1116	c.944C>T	c.(943-945)cCg>cTg	p.P315L	ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000568028.1_Missense_Mutation_p.P315L|ZNF747_ENST00000535210.1_Missense_Mutation_p.P315L|ZNF747_ENST00000252799.3_3'UTR			Q9BV97	ZN747_HUMAN	zinc finger protein 747	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			kidney(1)|lung(3)|prostate(1)	5						GCCCACAGGCGGGTCCAGGTC	0.647000													4	3					0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206869256	206869256	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:206869256G>A	ENST00000403263.1	-	11	3324	c.2920C>T	c.(2920-2922)Cag>Tag	p.Q974*		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	0					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GCGCTGAACTGAGGGAGTTGC	0.587000													6	9					0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141619313	141619313	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:141619313C>T	ENST00000548136.1	+	1	697	c.638C>T	c.(637-639)cCt>cTt	p.P213L	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	213					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)					TCTTTGATCCCTACAATTGTC	0.463000													50	78					0	0	1	0	0
SREBF1	6720	broad.mit.edu	37	17	17715992	17715992	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:17715992C>T	ENST00000355815.4	-	20	3647	c.3478G>A	c.(3478-3480)Gac>Aac	p.D1160N	SREBF1_ENST00000338854.5_Intron|SREBF1_ENST00000261646.5_Missense_Mutation_p.D1130N|SREBF1_ENST00000395757.1_Missense_Mutation_p.D876N	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1130					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGCTGACAGTCGTGCAGCAGC	0.692000													10	11					0	0	1	0	0
TSPAN18	90139	broad.mit.edu	37	11	44940788	44940788	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:44940788G>A	ENST00000340160.3	+	6	596	c.357G>A	c.(355-357)aaG>aaA	p.K119K	TSPAN18_ENST00000520358.2_Silent_p.K119K	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	119						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						TCTTCACCAAGGAGCTCACCA	0.577000													21	53					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	266857	266857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:266857C>T	ENST00000538872.1	+	7	2558	c.2440C>T	c.(2440-2442)Cga>Tga	p.R814*	IQSEC3_ENST00000326261.4_Nonsense_Mutation_p.R814*|IQSEC3_ENST00000382841.2_Nonsense_Mutation_p.R511*			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	814	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCGAAACCTTCGAGGTGAGGA	0.587000													30	33					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479926	142479926	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:142479926G>A	ENST00000603901.1	+	0	58					NR_001296.3																						CCCCTTTGATGATGATGACAA	0.547000													86	88					0	0	1	0	0
ART3	419	broad.mit.edu	37	4	77018808	77018808	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:77018808G>A	ENST00000355810.4	+	4	912	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	ART3_ENST00000341029.5_Missense_Mutation_p.E265K|ART3_ENST00000513494.1_3'UTR|ART3_ENST00000349321.3_Missense_Mutation_p.E265K	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	265					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACTAAAAACCGAAAACTGTAT	0.328000													35	70					0	0	1	0	0
C11orf35	256329	broad.mit.edu	37	11	555069	555069	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:555069G>A	ENST00000329451.3	-	14	1878	c.1816C>T	c.(1816-1818)Ctg>Ttg	p.L606L		NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	606										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-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;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCACCGACAGGGCCACCAGG	0.756000													4	7					0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158569980	158569980	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:158569980G>A	ENST00000367102.2	-	5	413	c.272C>T	c.(271-273)gCc>gTc	p.A91V	SERAC1_ENST00000367104.3_Missense_Mutation_p.A91V|SERAC1_ENST00000607000.1_Missense_Mutation_p.A91V|SERAC1_ENST00000367101.1_Missense_Mutation_p.A91V			Q96JX3	SRAC1_HUMAN	serine active site containing 1	91					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TGCCTGCCAGGCAATACCTAA	0.363000													12	17					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27447261	27447261	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:27447261C>T	ENST00000264705.4	+	9	1319	c.1157C>T	c.(1156-1158)cCc>cTc	p.P386L	CAD_ENST00000403525.1_Missense_Mutation_p.P386L	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	386	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ATTCCCACTCCCGGCTCTGGA	0.577000													38	51					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71318539	71318539	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:71318539C>T	ENST00000370932.2	-	3	1311	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	PTGER3_ENST00000370931.3_3'UTR|PTGER3_ENST00000460330.1_Missense_Mutation_p.E370K|PTGER3_ENST00000351052.5_3'UTR	NM_198717.1	NP_942010.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	361					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	CCCCAAAATTCCTCCTGGAAA	0.323000													72	180					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716878	13716878	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:13716878G>A	ENST00000279593.3	-	13	3503	c.3294C>T	c.(3292-3294)tcC>tcT	p.S1098S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1098					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)	ACTCCCTGCGGGACTTGGCCG	0.622000													26	27					0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747631	143747631	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:143747631G>A	ENST00000408906.2	+	1	171	c.137G>A	c.(136-138)gGg>gAg	p.G46E		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GCCATCCTGGGGCTCATCTGG	0.522000													57	76					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181762859	181762859	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:181762859C>T	ENST00000357570.5	+	45	6122	c.5810C>T	c.(5809-5811)cCt>cTt	p.P1937L	CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1967L|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1986L|CACNA1E_ENST00000358338.5_Intron			Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1986					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						ATCTACCTTCCTTCGGACACC	0.507000													9	27					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35802771	35802771	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:35802771C>T	ENST00000342694.2	+	12	2113	c.1858C>T	c.(1858-1860)Cgt>Tgt	p.R620C		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	620	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	p.R620C(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTGGATGTTTCGTTATTCACT	0.408000													68	15					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77614213	77614213	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:77614213G>A	ENST00000461745.1	+	12	2691	c.1791G>A	c.(1789-1791)gcG>gcA	p.A597A	ROBO2_ENST00000332191.8_Silent_p.A597A|ROBO2_ENST00000487694.3_Silent_p.A613A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	597	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGGTCAGAGCGATCAACCCCC	0.498000													59	71					0	0	1	0	0
RBMX2	51634	broad.mit.edu	37	X	129537820	129537820	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:129537820T>C	ENST00000305536.6	+	3	230	c.166T>C	c.(166-168)Ttc>Ctc	p.F56L	RBMX2_ENST00000469953.1_3'UTR|RBMX2_ENST00000370947.1_Missense_Mutation_p.F56L	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	56	RRM.						nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						CATCTGTGTGTTCTCACAGTA	0.403000													182	20					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883899	4883899	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:4883899G>A	ENST00000361571.5	-	8	1126	c.715C>T	c.(715-717)Cac>Tac	p.H239Y	CAMTA2_ENST00000572543.1_Missense_Mutation_p.H245Y|CAMTA2_ENST00000348066.3_Missense_Mutation_p.H240Y|CAMTA2_ENST00000414043.3_Missense_Mutation_p.H263Y|CAMTA2_ENST00000381311.5_Missense_Mutation_p.H242Y|CAMTA2_ENST00000358183.4_Missense_Mutation_p.H240Y	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	240					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTGCATTTGTGGGTAAGGCTC	0.547000											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	43					0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26594983	26594983	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:26594983C>T	ENST00000252992.4	+	8	1482	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	CEP85_ENST00000451429.2_Missense_Mutation_p.R400C	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	451						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GGTCAAAGGTCGTGATAAACA	0.473000													17	57					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8976789	8976789	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:8976789C>T	ENST00000397910.4	-	73	42480	c.42277G>A	c.(42277-42279)Ggc>Agc	p.G14093S	MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Missense_Mutation_p.G734S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14124				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						GAGCCCTTGCCCATATCTGGT	0.567000													11	23					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184008046	184008046	+	Missense_Mutation	SNP	G	G	A	rs142884324	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:184008046G>A	ENST00000402825.3	+	14	1909	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K	ECE2_ENST00000404464.3_Missense_Mutation_p.E519K|ECE2_ENST00000359140.4_Missense_Mutation_p.E490K|ECE2_ENST00000357474.5_Missense_Mutation_p.E565K|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	637	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)			CCCACAGTACGAAATTTCTGA	0.448000													9	13					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48249190	48249190	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:48249190G>A	ENST00000394747.1	-	7	1366	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	ABCC11_ENST00000537808.1_Silent_p.I339I|ABCC11_ENST00000356608.2_Silent_p.I339I|ABCC11_ENST00000394748.1_Silent_p.I339I|ABCC11_ENST00000353782.5_Silent_p.I339I	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	339	ABC transmembrane type-1 1.					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)				TGGTCACACGGATGCGCTGGT	0.438000													41	53					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128494966	128494966	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:128494966G>A	ENST00000325888.8	+	42	7396	c.7135_splice	c.e42+1	p.G2379_splice	FLNC_ENST00000346177.6_Splice_Site_p.G2346_splice|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2379					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						CCAGGAACCAGGTGGGCGTCC	0.617000													13	72					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371155	48371155	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:48371155C>T	ENST00000395702.2	+	2	850	c.623C>T	c.(622-624)tCa>tTa	p.S208L	ZNF488_ENST00000586537.1_Missense_Mutation_p.S101L|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	208					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						GGTCGACTTTCAACTCCCAAG	0.537000													35	64					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156823854	156823854	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:156823854G>A	ENST00000368195.3	-	2	723	c.327C>T	c.(325-327)ctC>ctT	p.L109L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	109					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCCCAGGAAGAGGCGCGTCC	0.627000													16	29					0	0	1	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099665	142099665	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:142099665G>A	ENST00000390359.3	-	0	175																											TACATGACCCGAAATTGGATC	0.502000													37	39					0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149314161	149314161	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:149314161C>T	ENST00000255266.5	-	2	714	c.595G>A	c.(595-597)Gat>Aat	p.D199N		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	199	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGGATCCATCCACTTTATTC	0.463000													39	55					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566767	20566767	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:20566767C>T	ENST00000329697.6	-	4	588	c.420G>A	c.(418-420)atG>atA	p.M140I	ACSM2B_ENST00000567001.1_Missense_Mutation_p.M140I|ACSM2B_ENST00000565232.1_Missense_Mutation_p.M140I|ACSM2B_ENST00000414188.2_Missense_Mutation_p.M140I|ACSM2B_ENST00000565322.1_Missense_Mutation_p.M61I	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	140					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						CAGTGGATTTCATCTGGATGG	0.428000													56	57					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40964861	40964861	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	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													32	47					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475054	32475054	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:32475054C>T	ENST00000404025.2	-	5	2367	c.1879G>A	c.(1879-1881)Gct>Act	p.A627T	NLRC4_ENST00000402280.1_Missense_Mutation_p.A627T|NLRC4_ENST00000360906.5_Missense_Mutation_p.A627T|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	627					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCTTCTGCAGCCTTTTCCCAT	0.458000													79	100					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145112517	145112517	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:145112517G>A	ENST00000426825.1	-	10	1337	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	419							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)	GGCCTCAGGGGAAAGTGGTTG	0.657000													6	4					0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136475314	136475314	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:136475314G>A	ENST00000308191.6	+	7	882		c.e7+1		RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B						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)	AGAGCCAAAGGTAAGACAAGA	0.502000													8	19					0	0	1	0	0
TADA3	10474	broad.mit.edu	37	3	9825779	9825779	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:9825779G>A	ENST00000343450.2	-	8	1586	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	TADA3_ENST00000440161.1_Missense_Mutation_p.R347C|TADA3_ENST00000301964.2_Missense_Mutation_p.R347C	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	347					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						TGCCGTTTGCGAAGCTCAGCA	0.612000													12	20					0	0	1	0	0
LINC01098	285501	broad.mit.edu	37	4	178897012	178897012	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:178897012G>A	ENST00000507870.1	+	5	677	c.215G>A	c.(214-216)gGa>gAa	p.G72E																	lung(8)|prostate(1)	9						TGGGGCACGGGAAAGGGGTTG	0.413000													56	74					0	0	1	0	0
LPCAT2	54947	broad.mit.edu	37	16	55562320	55562320	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:55562320G>A	ENST00000262134.5	+	3	527	c.343G>A	c.(343-345)Ggt>Agt	p.G115S		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	115					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GAAATTTCTGGGTCGTGCTAT	0.353000													28	41					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20322515	20322515	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:20322515C>T	ENST00000245957.5	+	26	3539	c.3463C>T	c.(3463-3465)Cgt>Tgt	p.R1155C	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1155										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)		GTTCCACGATCGTTTTATTGA	0.443000													19	25					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326071	152326071	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:152326071C>T	ENST00000388718.5	-	3	4263	c.4191G>A	c.(4189-4191)gaG>gaA	p.E1397E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1397							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)			GTCCAGTGGCCTCTCCTGTCT	0.507000													50	416					0	0	1	0	0
DKK1	22943	broad.mit.edu	37	10	54074829	54074829	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:54074829G>A	ENST00000373970.3	+	2	529	c.390G>A	c.(388-390)ggG>ggA	p.G130G	DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	130	DKK-type Cys-1.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						GCTGCCCCGGGAATTACTGCA	0.602000													14	18					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763459	77763459	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:77763459C>T	ENST00000521891.2	+	10	4750	c.4302C>T	c.(4300-4302)ttC>ttT	p.F1434F	ZFHX4_ENST00000518282.1_Silent_p.F1408F|ZFHX4_ENST00000050961.6_Silent_p.F1389F|ZFHX4_ENST00000455469.2_Silent_p.F1389F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1389						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)			AGCGCAGTTTCCGTACATTCC	0.468000										HNSCC(33;0.089)			16	21					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899152	112899152	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:112899152C>T	ENST00000374530.3	+	8	1508	c.1328C>T	c.(1327-1329)tCa>tTa	p.S443L	AKAP2_ENST00000555236.1_Missense_Mutation_p.S443L|AKAP2_ENST00000259318.7_Missense_Mutation_p.S212L|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.S443L|AKAP2_ENST00000374525.1_Missense_Mutation_p.S301L|AKAP2_ENST00000510514.5_Missense_Mutation_p.S443L|AKAP2_ENST00000434623.2_Missense_Mutation_p.S301L	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		212							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						GTGAGGCCTTCAGAGGAGATG	0.517000													24	50					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39671853	39671853	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:39671853G>A	ENST00000254043.3	-	6	4703	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	KRT15_ENST00000393981.3_Missense_Mutation_p.A208V|KRT15_ENST00000393976.2_Missense_Mutation_p.A373V|KRT15_ENST00000393974.3_Missense_Mutation_p.A208V	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	373	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACTCAGCTGGGCCTCCAGGCC	0.592000													34	56					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629132	47629132	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:47629132C>T	ENST00000546455.1	+	4	1017	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	PCED1B_ENST00000432328.1_Missense_Mutation_p.R96C					PC-esterase domain containing 1B																		CTTCCTCACCCGCGTGTACTC	0.597000													57	86					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33686385	33686385	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:33686385G>A	ENST00000399362.4	-	8	1079	c.726C>T	c.(724-726)ttC>ttT	p.F242F	CLASP2_ENST00000359576.5_Silent_p.F242F|CLASP2_ENST00000487200.1_Silent_p.F15F|CLASP2_ENST00000468888.2_Silent_p.F242F|CLASP2_ENST00000539981.1_Silent_p.F15F|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000461133.3_Silent_p.F9F|CLASP2_ENST00000482896.1_5'UTR|CLASP2_ENST00000480013.1_Silent_p.F9F|CLASP2_ENST00000313350.6_Silent_p.F15F|CLASP2_ENST00000333778.6_Silent_p.F19F	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	242										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CTTCATCATCGAAGCTTTTAT	0.378000													8	8					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	154996894	154996894	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:154996894G>A	ENST00000392825.3	+	4	754	c.187G>A	c.(187-189)Gct>Act	p.A63T	GALNT13_ENST00000409237.1_Missense_Mutation_p.A63T	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	63						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						AATGGGAAAAGCTGTGTTGAT	0.368000													24	33					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9224869	9224869	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:9224869G>A	ENST00000382496.5	-	8	1228	c.563C>T	c.(562-564)cCa>cTa	p.P188L		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	188	Sema.				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						ATCACGTCCTGGAAAATCCAT	0.557000													15	27					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51293367	51293367	+	Silent	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:51293367T>C	ENST00000261842.5	+	20	3346	c.3240T>C	c.(3238-3240)atT>atC	p.I1080I	AP4E1_ENST00000560508.1_Silent_p.I1005I|AP4E1_ENST00000561397.1_3'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1080					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GACTCCATATTATTGAGATTA	0.333000													40	50					0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49095047	49095047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:49095047G>A	ENST00000395443.2	-	3	1058	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	QRICH1_ENST00000357496.2_Nonsense_Mutation_p.Q196*|QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000424300.1_Nonsense_Mutation_p.Q196*	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	196	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGCTGAGCCTGGATTTGCTGA	0.612000													62	72					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179480415	179480415	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179480415C>T	ENST00000589042.1	-	258	48637	c.48413G>A	c.(48412-48414)gGa>gAa	p.G16138E	TTN_ENST00000591111.1_Missense_Mutation_p.G14497E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G7073E|TTN_ENST00000342175.6_Missense_Mutation_p.G7265E|TTN_ENST00000342992.6_Missense_Mutation_p.G13570E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7198E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14497	Fibronectin type-III 17.						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)			TGCAGGTTCTCCAGGGCCACA	0.373000													61	127					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075489	76075489	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:76075489G>A	ENST00000395215.3	+	0	1129																											GCAagcaggaggagaggctgc	0.602000													97	106					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43222323	43222323	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:43222323G>A	ENST00000259750.4	+	6	593	c.510G>A	c.(508-510)agG>agA	p.R170R	TTBK1_ENST00000304139.5_Silent_p.R119R	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	170	Protein kinase.					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)			CCACCTACAGGAAGTGCTATA	0.662000													19	82					0	0	1	0	0
TMEM120B	144404	broad.mit.edu	37	12	122190100	122190100	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:122190100C>T	ENST00000449592.2	+	5	533	c.432C>T	c.(430-432)gcC>gcT	p.A144A	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	144						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TCCTGGGTGCCGTGGCATGTC	0.607000													34	37					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113418778	113418778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:113418778C>T	ENST00000297405.5	-	35	6028	c.5784G>A	c.(5782-5784)tgG>tgA	p.W1928*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W1858*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W1888*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W1824*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1928	Sushi 10.					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						AGGAATCATTCCACTGGGCCA	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			38	53					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130860	45130860	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:45130860C>T	ENST00000457685.2	-	6	2327	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E	ZNF334_ENST00000593880.1_Missense_Mutation_p.G396E|ZNF334_ENST00000347606.4_Missense_Mutation_p.G373E			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	373					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)				TGGCTTCTCTCCTCTGTGAGT	0.443000													93	128					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76657234	76657234	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:76657234C>T	ENST00000369950.3	-	14	2030	c.1841G>A	c.(1840-1842)cGa>cAa	p.R614Q	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	614	SEA 2.				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)				AAGATTGGATCGTAGATATGG	0.373000													13	31					0	0	1	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48837717	48837717	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:48837717G>T	ENST00000376423.4	-	19	1635	c.1603C>A	c.(1603-1605)Ctc>Atc	p.L535I	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.L583I|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.L569I|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.L614I	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	614						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TGCCGCTTGAGGTCCTTGAGC	0.617000													6	2					0.00116845	0.00117099	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131878822	131878822	+	Splice_Site	SNP	A	A	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:131878822A>C	ENST00000359827.3	-	14	3817	c.2856_splice	c.e14+1	p.M952_splice	PLXNA4_ENST00000321063.4_Splice_Site_p.M952_splice			Q9HCM2	PLXA4_HUMAN	plexin A4	952	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						AAGACTCACCATGAAGTAATA	0.592000													17	40					0	0	1	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788100	140788100	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140788100G>A	ENST00000520790.1	+	1	331	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_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)			AGCTGTGGTGGAAAATCCTTT	0.393000													42	69					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70917840	70917840	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:70917840G>A	ENST00000393567.2	-	59	10112	c.9962C>T	c.(9961-9963)gCt>gTt	p.A3321V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3321										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)				ACAGGCTTCAGCTAGCAAAGT	0.537000													29	30					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579597	55579597	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:55579597C>T	ENST00000333973.2	+	1	744	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CACCTCCTACCTGCTAATTCT	0.502000													58	99					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227182	28227182	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:28227182G>A	ENST00000343684.3	+	1	85	c.33G>A	c.(31-33)gaG>gaA	p.E11E		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	11										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						GCTATTCCGAGGACATCGTGG	0.652000													22	52					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81743713	81743713	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:81743713G>A	ENST00000555447.1	-	6	2354	c.1942C>T	c.(1942-1944)Cat>Tat	p.H648Y	STON2_ENST00000267540.2_Missense_Mutation_p.H648Y	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	648	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)		ACACACCCATGGAAACGGCAC	0.498000													25	10					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19647617	19647617	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:19647617G>A	ENST00000284885.3	-	24	2834	c.2801C>T	c.(2800-2802)cCt>cTt	p.P934L		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	934	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGATAGAAGAGGAACATCAGC	0.398000													45	71					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131569132	131569132	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:131569132G>A	ENST00000261654.5	+	15	2154	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	GPR133_ENST00000535015.1_Missense_Mutation_p.G564E|GPR133_ENST00000376682.4_Missense_Mutation_p.G218E|GPR133_ENST00000543617.1_Missense_Mutation_p.G51E	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	532	GPS.				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)		CTCACGAGAGGAAACCTCACC	0.622000													18	32					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204410631	204410631	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:204410631G>A	ENST00000367187.3	-	22	3773	c.3217C>T	c.(3217-3219)Ccc>Tcc	p.P1073S	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.P1045S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1073					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)			TCACCCAGGGGATCCACATTT	0.522000													26	26					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753350	13753350	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:13753350C>T	ENST00000265104.4	-	63	10968	c.10864G>A	c.(10864-10866)Gaa>Aaa	p.E3622K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3622	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)					ACCTGGAGTTCATTTCGGCTT	0.333000									Kartagener syndrome				20	39					0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206651584	206651584	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:206651584C>T	ENST00000367120.3	+	9	1267	c.894C>T	c.(892-894)ttC>ttT	p.F298F	IKBKE_ENST00000537984.1_Silent_p.F213F|IKBKE_ENST00000462698.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	298	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TCGACCAGTTCTTTGCGGAGA	0.607000													84	60					0	0	1	0	0
NFATC2IP	84901	broad.mit.edu	37	16	28975094	28975094	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:28975094C>T	ENST00000320805.4	+	8	1245	c.1170C>T	c.(1168-1170)tcC>tcT	p.S390S	NFATC2IP_ENST00000564978.1_Silent_p.S111S|RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000568148.1_Silent_p.S98S	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	390	Ubiquitin-like.					cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						GGAAGCTCTCCTTCTTCTTTG	0.552000													30	45					0	0	1	0	0
INHBE	83729	broad.mit.edu	37	12	57850015	57850015	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:57850015G>A	ENST00000266646.2	+	2	653	c.437G>A	c.(436-438)gGa>gAa	p.G146E	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	146					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						TTCCGATGGGGACCAAGGAGG	0.622000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	89	122					0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241749995	241749995	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:241749995C>T	ENST00000366559.4	+	11	1283	c.972C>T	c.(970-972)tgC>tgT	p.C324C	KMO_ENST00000366558.3_Silent_p.C324C|KMO_ENST00000366557.4_Silent_p.C324C	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	324					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)			TTGAAGACTGCTTGGTATTTG	0.308000													35	100					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769122	13769122	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:13769122C>T	ENST00000265104.4	-	58	9948	c.9844G>A	c.(9844-9846)Gaa>Aaa	p.E3282K	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3282	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)					TCCAGTTTTTCTTCAGCAATG	0.483000									Kartagener syndrome				70	106					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20526788	20526788	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:20526788C>T	ENST00000504154.1	+	15	1707	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	SLIT2_ENST00000503837.1_Intron|SLIT2_ENST00000273739.5_Silent_p.F489F|SLIT2_ENST00000503823.1_Intron	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	485					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						AACAGTATTTCATTCCAGGTA	0.343000													18	33					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35774065	35774065	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:35774065G>A	ENST00000440995.2	+	28	4005	c.4005G>A	c.(4003-4005)agG>agA	p.R1335R	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.R1340R			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1340					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)			AAATCAAAAGGAAAAATGAAC	0.388000													27	42					0	0	1	0	0
SLC9B1	150159	broad.mit.edu	37	4	103827792	103827792	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:103827792G>A	ENST00000296422.7	-	10	1237	c.1096C>T	c.(1096-1098)Caa>Taa	p.Q366*	SLC9B1_ENST00000512651.2_Intron|SLC9B1_ENST00000394789.3_Nonsense_Mutation_p.Q366*	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	366						integral to membrane	solute:hydrogen antiporter activity										ATAATCTTTTGGACTTTCATC	0.303000													21	19					0	0	1	0	0
TGIF2LY	90655	broad.mit.edu	37	Y	3447449	3447449	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrY:3447449G>A	ENST00000559055.2	+	1	294	c.164G>A	c.(163-165)gGa>gAa	p.G55E	TGIF2LY_ENST00000321217.4_Missense_Mutation_p.G55E			Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	55						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						AAGCGCAAGGGAAACTTGCCA	0.498000													54	9					0	0	1	0	0
VPS37C	55048	broad.mit.edu	37	11	60899665	60899665	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:60899665G>A	ENST00000301765.5	-	5	927	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	232	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GGAGGGCTGGGACACTACTGG	0.687000													4	4					0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40778102	40778102	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:40778102C>T	ENST00000358268.2	-	10	2247	c.1719G>A	c.(1717-1719)ggG>ggA	p.G573G	LCA5L_ENST00000495240.1_5'UTR|LCA5L_ENST00000288350.3_Silent_p.G573G|LCA5L_ENST00000380671.2_Silent_p.G573G|WRB_ENST00000541890.1_Intron			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	573										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				AGGGCTCATACCCACTGTCAG	0.463000													53	76					0	0	1	0	0
FAM222B	55731	broad.mit.edu	37	17	27086422	27086422	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:27086422G>A	ENST00000341217.5	-	3	770	c.555C>T	c.(553-555)tcC>tcT	p.S185S	FAM222B_ENST00000583953.1_3'UTR|FAM222B_ENST00000582059.1_3'UTR|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000581407.1_Silent_p.S185S|FAM222B_ENST00000452648.3_Silent_p.S185S	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN	family with sequence similarity 222, member B	185	Gln-rich.																TCTGAGGGTGGGACAGTGCCT	0.706000													4	8					0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1038509	1038509	+	Silent	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:1038509T>C	ENST00000360803.4	+	2	211	c.129T>C	c.(127-129)atT>atC	p.I43I	GTPBP4_ENST00000538293.1_5'UTR|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_5'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	43					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TACATCGCATTAGACATTTTT	0.333000													19	17					0	0	1	0	0
MMGT1	93380	broad.mit.edu	37	X	135047201	135047201	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:135047201G>A	ENST00000305963.2	-	4	765	c.378C>T	c.(376-378)ctC>ctT	p.L126L	MMGT1_ENST00000433339.2_Silent_p.L191L	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	126						early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)	3						GCAGTGATTCGAGTTTTCGTA	0.408000													113	13					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9307339	9307339	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:9307339G>A	ENST00000261336.2	-	29	3675	c.3647C>T	c.(3646-3648)tCc>tTc	p.S1216F	PZP_ENST00000381997.2_Missense_Mutation_p.S1002F	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						GAGCACATAGGATGTCATCTC	0.567000													15	24					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	4016064	4016064	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:4016064G>A	ENST00000381638.2	-	5	1029	c.905C>T	c.(904-906)tCc>tTc	p.S302F	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	302	DOC.						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						CACTGCAATGGACAGGTGCCT	0.468000													13	24					0	0	1	0	0
SLC22A4	6583	broad.mit.edu	37	5	131657895	131657895	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:131657895A>T	ENST00000200652.3	+	4	845	c.671A>T	c.(670-672)aAg>aTg	p.K224M	AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	224					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ATTCTTGGCAAGTCAGTTCGT	0.373000													61	86					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163291710	163291710	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:163291710C>T	ENST00000332142.5	-	8	2051	c.1952G>A	c.(1951-1953)gGc>gAc	p.G651D	KCNH7_ENST00000328032.4_Missense_Mutation_p.G644D	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	651					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)	CTACTTACAGCCAATCAACAT	0.328000													33	46					0	0	1	0	0
SLC26A1	10861	broad.mit.edu	37	4	983005	983005	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:983005C>T	ENST00000361661.2	-	4	2099	c.1722G>A	c.(1720-1722)aaG>aaA	p.K574K	SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000509744.1_Intron|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Silent_p.K574K|IDUA_ENST00000453894.1_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	574	STAS.					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGCCCCCCTCCTTCCTCCTGG	0.692000													14	17					0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066503	18066503	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:18066503C>T	ENST00000506618.2	-	1	983	c.903G>A	c.(901-903)agG>agA	p.R301R		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	301					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TATGAGTTCTCCTTATGGCTT	0.363000													102	157					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17720841	17720841	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:17720841G>A	ENST00000428389.2	-	44	4982	c.4983C>T	c.(4981-4983)atC>atT	p.I1661I	UNC13A_ENST00000252773.7_Silent_p.I1573I|UNC13A_ENST00000519716.2_Silent_p.I1573I|UNC13A_ENST00000551649.1_Silent_p.I1592I|UNC13A_ENST00000550896.1_Silent_p.I1546I|UNC13A_ENST00000552293.1_Silent_p.I1567I			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1573					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						GGGGCCCAATGATGTTGACCT	0.517000													58	64					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637322	248637322	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248637322C>T	ENST00000359594.2	+	1	696	c.671C>T	c.(670-672)aCc>aTc	p.T224I		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	224					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)			AGCTCATACACCCTCATCCTG	0.557000													186	132					0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22303559	22303559	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:22303559C>T	ENST00000337107.6	+	1	46	c.27C>T	c.(25-27)ctC>ctT	p.L9L		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	9					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						TCAGTTCCCTCCTCCTTGTGG	0.527000													88	30					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10545581	10545581	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:10545581G>A	ENST00000583535.1	-	17	2022	c.1935C>T	c.(1933-1935)ttC>ttT	p.F645F	MYH3_ENST00000226209.7_Silent_p.F645F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	645	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AGACAGTTTGGAAGGAAGAAC	0.383000													14	22					0	0	1	0	0
CXorf21	80231	broad.mit.edu	37	X	30577791	30577791	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:30577791C>T	ENST00000378962.3	-	3	1004	c.682G>A	c.(682-684)Gac>Aac	p.D228N		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	228										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AACACGGTGTCCATAATGTAC	0.413000													59	11					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39801155	39801155	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:39801155C>T	ENST00000373272.2	+	26	3405	c.3000C>T	c.(2998-3000)ttC>ttT	p.F1000F	PLCG1_ENST00000461641.1_3'UTR|PLCG1_ENST00000244007.3_Silent_p.F1000F|PLCG1_ENST00000373271.1_Silent_p.F1000F	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1000	PI-PLC Y-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)				GCAAGAAGTTCCTTCAGTACA	0.542000													23	30					0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51563736	51563736	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:51563736G>A	ENST00000595793.1	-	2	235	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	KLK13_ENST00000596955.1_Silent_p.L65L|KLK13_ENST00000595547.1_Silent_p.L65L|KLK13_ENST00000335422.3_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	65	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGGTGGACCAGGACTCCCCCA	0.617000													33	45					0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167549917	167549917	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:167549917G>A	ENST00000341935.5	+	3	751	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	CCR6_ENST00000349984.4_Missense_Mutation_p.V67M|CCR6_ENST00000400926.2_Missense_Mutation_p.V67M	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	67					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	p.V67L(1)		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)		GAATATTCTGGTGGTGATCAC	0.478000													53	55					0	0	1	0	0
HECA	51696	broad.mit.edu	37	6	139488169	139488169	+	Silent	SNP	C	C	T	rs150947459		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:139488169C>T	ENST00000367658.2	+	2	1305	c.1020C>T	c.(1018-1020)ccC>ccT	p.P340P	RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	340					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TCGACACCCCCGTGCAGTTCC	0.587000													31	50					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946540	144946540	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:144946540G>A	ENST00000525985.1	-	2	953	c.882C>T	c.(880-882)ccC>ccT	p.P294P				P58107	EPIPL_HUMAN	epiplakin 1	294						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)			TGTGGCCTTCGGGCAGCAGGA	0.692000													5	39					0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85655855	85655855	+	Silent	SNP	A	A	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:85655855A>C	ENST00000341460.5	-	2	1375	c.1326T>G	c.(1324-1326)ccT>ccG	p.P442P		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	442					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CAGGATGTATAGGATTCATTC	0.468000													132	83					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954436	30954436	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:30954436G>A	ENST00000376296.3	+	2	725	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	162	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTCCAGTGAGGCCAGCACAGC	0.617000													291	188					0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114193713	114193713	+	Silent	SNP	C	C	T	rs142041655	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:114193713C>T	ENST00000434316.2	+	10	1940	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	527						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	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;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TGGGCTGTTTCCTGGCTGGAG	0.627000													29	32					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138174084	138174084	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:138174084T>C	ENST00000389567.4	+	3	604	c.418T>C	c.(418-420)Ttc>Ctc	p.F140L	ESYT3_ENST00000289135.4_Missense_Mutation_p.F140L	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	140						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGAAAGCAAGTTCCGGGAGAA	0.522000													43	54					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37951818	37951818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:37951818G>A	ENST00000436072.2	-	4	1071	c.694C>T	c.(694-696)Cga>Tga	p.R232*	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	232	NTR.				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						ACTTGAGTTCGAGGGATGGGT	0.473000													16	75					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753621	76753621	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:76753621C>T	ENST00000536229.3	+	1	1940	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	SALL3_ENST00000575389.2_Missense_Mutation_p.P544S|SALL3_ENST00000537592.2_Missense_Mutation_p.P544S			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	544					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)		CGCCGACTCTCCCAGCGCCAC	0.736000													6	14					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42486143	42486143	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:42486143G>A	ENST00000545399.1	-	9	1301	c.1148C>T	c.(1147-1149)aCc>aTc	p.T383I	ATP1A3_ENST00000602133.1_Missense_Mutation_p.T340I|ATP1A3_ENST00000302102.5_Missense_Mutation_p.T370I|ATP1A3_ENST00000543770.1_Missense_Mutation_p.T381I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	370					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						CTGAGTGAGGGTCCCTGTCTT	0.602000													67	110					0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232561	56232561	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:56232561G>A	ENST00000268912.5	+	1	68	c.47G>A	c.(46-48)gGg>gAg	p.G16E		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						GTCCTCTTAGGGTTTTCACAG	0.438000													64	94					0	0	1	0	0
LETM1	3954	broad.mit.edu	37	4	1825473	1825473	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:1825473G>A	ENST00000302787.2	-	8	1526	c.1230C>T	c.(1228-1230)atC>atT	p.I410I		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	410	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GCGATGTGGGGATCTCCTGAT	0.642000													18	22					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18680361	18680361	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:18680361C>T	ENST00000380548.4	+	11	1527	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	ADAMTSL1_ENST00000276935.6_Silent_p.I396I|ADAMTSL1_ENST00000380566.4_Silent_p.I379I|ADAMTSL1_ENST00000327883.7_Silent_p.I396I	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	396	TSP type-1 2.					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)		GGGGGGGCATCCAGAGCCGGG	0.602000													34	11					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739232	62739232	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:62739232C>T	ENST00000371153.4	-	3	1922	c.1544G>A	c.(1543-1545)gGa>gAa	p.G515E	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	515										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						TCCCCTGGTTCCTCCCTGAGG	0.597000													40	84					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	153984830	153984830	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:153984830G>A	ENST00000368559.3	-	34	4741	c.4670C>T	c.(4669-4671)tCa>tTa	p.S1557L	NUP210L_ENST00000271854.3_Missense_Mutation_p.S1557L|NUP210L_ENST00000368553.1_Missense_Mutation_p.S490L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1557						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)			TAATCTTGATGATGCATTGAC	0.413000													60	135					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43262760	43262760	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:43262760G>A	ENST00000290650.4	-	40	4493	c.4415C>T	c.(4414-4416)tCc>tTc	p.S1472F	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1472					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGAAGATGCGGAATGAGCCTC	0.353000													32	52					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086959	100086959	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:100086959G>A	ENST00000423930.1	+	4	1774	c.1615G>A	c.(1615-1617)Gac>Aac	p.D539N	NYAP1_ENST00000454988.1_Missense_Mutation_p.D482N|NYAP1_ENST00000300179.2_Missense_Mutation_p.D539N			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	539																	CAGCCTTCCGGACCCAACTGT	0.706000													9	11					0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124457359	124457359	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:124457359C>T	ENST00000329446.4	-	3	929	c.898G>A	c.(898-900)Gat>Aat	p.D300N		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	300										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)				GATATAAAATCCTGATTCATT	0.463000													56	62					0	0	1	0	0
LARS2	23395	broad.mit.edu	37	3	45518045	45518045	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:45518045C>T	ENST00000415258.1	+	9	1085	c.944C>T	c.(943-945)tCg>tTg	p.S315L	LARS2_ENST00000414984.1_Missense_Mutation_p.S272L|LARS2_ENST00000265537.3_Missense_Mutation_p.S315L			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	315					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	GTGGCCATCTCGCCCAGCCAC	0.582000													36	65					0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3449301	3449301	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:3449301G>A	ENST00000382774.3	+	11	1553	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	HGFAC_ENST00000511533.1_Missense_Mutation_p.E487K	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	480	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTTCGGCATCGAGAAGTACAT	0.662000													92	151					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119929401	119929401	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:119929401G>A	ENST00000361035.4	+	6	1040	c.757G>A	c.(757-759)Ggt>Agt	p.G253S	HAO2_ENST00000325945.3_Missense_Mutation_p.G240S	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	240	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)		CAATGTCCAGGGTATCATTGT	0.458000													33	97					0	0	1	0	0
OSCAR	126014	broad.mit.edu	37	19	54600173	54600173	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:54600173C>T	ENST00000284648.6	-	4	546	c.349G>A	c.(349-351)Gat>Aat	p.D117N	OSCAR_ENST00000391760.1_Missense_Mutation_p.R59Q|OSCAR_ENST00000351806.4_Missense_Mutation_p.D106N|OSCAR_ENST00000356532.3_Missense_Mutation_p.D121N|OSCAR_ENST00000358375.4_Missense_Mutation_p.D117N|OSCAR_ENST00000391761.1_Missense_Mutation_p.D106N|OSCAR_ENST00000359649.4_Missense_Mutation_p.D121N			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	117						extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					TCCAGGACATCGCTGGGCTGG	0.607000													20	19					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111576501	111576501	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:111576501C>T	ENST00000261486.5	-	10	1078	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	268	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.E268K(1)		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)		AATGAGGTTTCGTTACACTAA	0.363000													27	26					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47655644	47655644	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:47655644C>T	ENST00000273857.4	-	13	1768	c.1769G>A	c.(1768-1770)gGa>gAa	p.G590E	CORIN_ENST00000504584.1_Missense_Mutation_p.G553E|CORIN_ENST00000502252.1_Missense_Mutation_p.G523E|CORIN_ENST00000505909.1_Missense_Mutation_p.G553E|CORIN_ENST00000508498.1_Missense_Mutation_p.G451E	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	590	LDL-receptor class A 5.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AACACACTGTCCTGAGCGGCA	0.413000													25	33					0	0	1	0	0
ZFAND1	79752	broad.mit.edu	37	8	82627088	82627088	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:82627088G>A	ENST00000220669.5	-	5	327	c.309C>T	c.(307-309)atC>atT	p.I103I	ZFAND1_ENST00000522520.1_5'UTR|ZFAND1_ENST00000523096.1_Silent_p.I103I|ZFAND1_ENST00000521287.1_5'UTR|ZFAND1_ENST00000521895.1_5'UTR|ZFAND1_ENST00000519523.1_Silent_p.I103I|ZFAND1_ENST00000517588.1_5'UTR	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	103							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GAGGCTTTGGGATTTCCAGTT	0.408000													41	52					0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183754305	183754305	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:183754305C>T	ENST00000334128.2	+	3	343	c.118C>T	c.(118-120)Cct>Tct	p.P40S	HTR3D_ENST00000453435.1_Intron|HTR3D_ENST00000382489.3_Intron|HTR3D_ENST00000428798.2_Missense_Mutation_p.P114S	NM_182537.2	NP_872343.2	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	205						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)			TGAACGCTCTCCTTCAGCCCT	0.498000													25	29					0	0	1	0	0
BZW2	28969	broad.mit.edu	37	7	16714191	16714191	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:16714191C>T	ENST00000433922.2	+	3	391	c.213C>T	c.(211-213)atC>atT	p.I71I	BZW2_ENST00000452975.2_Silent_p.I71I|BZW2_ENST00000405202.1_5'UTR|BZW2_ENST00000258761.3_Silent_p.I71I	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	71					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)		TCTTCGATATCCTGGTGGCTG	0.383000													34	41					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230377560	230377560	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:230377560C>T	ENST00000341772.4	-	6	1220	c.1086G>A	c.(1084-1086)gcG>gcA	p.A362A		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	362	EGF-like 4.				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)		CAATACAGCTCGCGTTGTTTT	0.438000													44	73					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160282899	160282899	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:160282899G>A	ENST00000241704.7	-	10	1130	c.901C>T	c.(901-903)Cct>Tct	p.P301S	COPA_ENST00000368069.3_Missense_Mutation_p.P301S	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	301					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)			TTAAGGTTAGGGTGAGCAGCT	0.393000													21	63					0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67375966	67375966	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:67375966G>A	ENST00000329956.6	+	2	196	c.177G>A	c.(175-177)agG>agA	p.R59R	LRRC36_ENST00000563303.1_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	59								p.R59S(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		ATTTATCAAGGAATTTGATCA	0.363000													18	29					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61328379	61328379	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:61328379C>T	ENST00000283752.5	-	2	215	c.72G>A	c.(70-72)gaG>gaA	p.E24E	SERPINB3_ENST00000332821.8_Silent_p.E24E|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	24					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						AGATGTTGTTCTCTTTTGATT	0.433000													155	101					0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228600	57228600	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:57228600C>T	ENST00000396721.2	-	2	437	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	SDR16C5_ENST00000522671.1_Missense_Mutation_p.E103K|SDR16C5_ENST00000303749.3_Missense_Mutation_p.E103K			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	103					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						TACACTCCTTCCTTTTGGCTG	0.448000													41	74					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10914379	10914379	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:10914379G>A	ENST00000298232.7	-	20	1653	c.1286C>T	c.(1285-1287)tCa>tTa	p.S429L	TPTE_ENST00000361285.4_Missense_Mutation_p.S447L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S409L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	447	C2 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)		TTTTCCTAATGAAATAGTGGA	0.328000													10	81					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29679433	29679433	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:29679433G>A	ENST00000358273.4	+	51	7998		c.e51+1		NF1_ENST00000417592.2_Intron|NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000444181.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						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)	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)		AAGTTGCTTGGTTAGTTTATC	0.363000			"""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)			15	21					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887005	25887005	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:25887005C>T	ENST00000376351.3	+	11	2809	c.2450C>T	c.(2449-2451)tCc>tTc	p.S817F	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	817						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTCAAGAAATCCCACAGCACT	0.512000													79	124					0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60545020	60545020	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:60545020G>T	ENST00000400324.4	-	16	2145	c.1925C>A	c.(1924-1926)cCt>cAt	p.P642H	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P596H|DIAPH3_ENST00000400319.1_Missense_Mutation_p.P572H|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P642H|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P642H|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P631H	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	642	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GCTGATTTCAGGTTTAAATTC	0.358000													28	38					2.48779e-11	2.51144e-11	1	1	0
ARL15	54622	broad.mit.edu	37	5	53409087	53409087	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:53409087G>A	ENST00000504924.1	-	4	500	c.407C>T	c.(406-408)cCc>cTc	p.P136L	ARL15_ENST00000502271.1_5'UTR|ARL15_ENST00000510591.2_5'UTR|ARL15_ENST00000507646.2_Missense_Mutation_p.P136L	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	136							GTP binding			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				TATTAAAAAGGGTAAAGTGCA	0.418000													22	31					0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22117189	22117189	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:22117189C>T	ENST00000379374.4	+	9	1564	c.999C>T	c.(997-999)atC>atT	p.I333I	PHEX_ENST00000537599.1_Silent_p.I333I|PHEX_ENST00000418858.3_Silent_p.I36I|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000535894.1_Silent_p.I236I	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	333					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TGAAAGACATCAGCCCCTCCG	0.458000													71	11					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159207	18159207	+	Missense_Mutation	SNP	G	G	A	rs151309429		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:18159207G>A	ENST00000396275.2	+	3	819	c.458G>A	c.(457-459)cGg>cAg	p.R153Q		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	153						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCCCTGCTGCGGAGTATCCTG	0.537000													71	82					0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54140084	54140084	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:54140084C>T	ENST00000376650.1	+	3	469	c.418C>T	c.(418-420)Cct>Tct	p.P140S		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	140						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CCTCAAGGTCCCTGCAAATGA	0.527000													67	91					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84561340	84561340	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:84561340C>T	ENST00000262753.4	-	12	1310		c.e12-1		POF1B_ENST00000373145.3_Splice_Site	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B								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						GAAGTCCTTGCTGTAAAGAAG	0.343000													61	7					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26806142	26806142	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:26806142C>T	ENST00000541819.2	-	9	1287	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q	GABRB3_ENST00000400188.3_Silent_p.Q268Q|GABRB3_ENST00000545868.1_Silent_p.Q254Q|GABRB3_ENST00000299267.4_Silent_p.Q339Q|GABRB3_ENST00000311550.5_Silent_p.Q339Q			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	339					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			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAAGCTTCTTCTGCCTTTGAG	0.507000													64	101					0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105260242	105260242	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:105260242C>T	ENST00000258538.3	-	6	1270	c.1143G>A	c.(1141-1143)tgG>tgA	p.W381*		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	381						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						TGACAGGCTCCCAGCCTGAGT	0.413000													27	27					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45393034	45393034	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:45393034G>A	ENST00000389039.6	-	23	3309	c.2924C>T	c.(2923-2925)tCc>tTc	p.S975F	DUOX2_ENST00000603300.1_Missense_Mutation_p.S975F			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	975	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)		CTGGGGGTGGGAGCTGAGAAA	0.597000													28	38					0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21488738	21488738	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:21488738T>C	ENST00000556147.1	-	8	1412	c.472A>G	c.(472-474)Aac>Gac	p.N158D	NDRG2_ENST00000397853.3_Missense_Mutation_p.N158D|NDRG2_ENST00000555158.1_Missense_Mutation_p.N144D|NDRG2_ENST00000397855.3_Intron|NDRG2_ENST00000403829.3_Missense_Mutation_p.N154D|NDRG2_ENST00000397856.3_Missense_Mutation_p.N144D|NDRG2_ENST00000397851.2_Missense_Mutation_p.N158D|NDRG2_ENST00000397858.1_Missense_Mutation_p.N158D|NDRG2_ENST00000553503.1_Missense_Mutation_p.N144D|NDRG2_ENST00000397844.2_Missense_Mutation_p.N144D|NDRG2_ENST00000554143.1_Missense_Mutation_p.N144D|NDRG2_ENST00000554104.1_Missense_Mutation_p.N71D|NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000298684.5_Intron|NDRG2_ENST00000360463.3_Missense_Mutation_p.N144D|NDRG2_ENST00000298687.5_Missense_Mutation_p.N158D|NDRG2_ENST00000350792.3_Missense_Mutation_p.N144D|NDRG2_ENST00000397847.2_Missense_Mutation_p.N158D			Q9UN36	NDRG2_HUMAN	NDRG family member 2	158					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TCCGGGTGGTTAAGCTGAGGG	0.567000													6	15					0	0	1	0	0
STS	412	broad.mit.edu	37	X	7171379	7171379	+	Splice_Site	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:7171379T>C	ENST00000217961.4	+	2	372		c.e2+2			NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S						female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	AACTATCAGGTTGGTAATGCA	0.502000									Ichthyosis				38	2					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47937734	47937734	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:47937734C>T	ENST00000289672.2	-	14	2172	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	708	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						TGGGAAATATCACAGAAGACT	0.483000													23	31					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48746762	48746762	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:48746762T>G	ENST00000285238.8	+	17	2194	c.2114T>G	c.(2113-2115)cTt>cGt	p.L705R		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	705	ABC transporter 1.				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)	AACTGCACTCTTCAGGAAAAC	0.602000													27	44					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101347261	101347261	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:101347261C>T	ENST00000344327.3	-	6	1939	c.1515G>A	c.(1513-1515)atG>atA	p.M505I	TRPC6_ENST00000348423.4_Missense_Mutation_p.M389I|TRPC6_ENST00000360497.4_Missense_Mutation_p.M450I|TRPC6_ENST00000532133.1_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	505					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)		CAGCCCATATCATGCCTGCAT	0.383000													29	42					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287813	16287813	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:16287813C>T	ENST00000343518.6	-	1	124	c.73G>A	c.(73-75)Ggc>Agc	p.G25S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	25										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CACCACTTGCCCATCTTGCTT	0.582000													88	467					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16008305	16008305	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:16008305G>C	ENST00000221700.5	-	2	212	c.117C>G	c.(115-117)taC>taG	p.Y39*	CYP4F2_ENST00000592328.1_Nonsense_Mutation_p.Y39*|CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	39					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						CATAGAAGGCGTAGGTCCAGG	0.642000													15	45					0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8584282	8584282	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:8584282G>A	ENST00000382487.4	+	2	1110	c.693G>A	c.(691-693)caG>caA	p.Q231Q	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	231					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GCCTCATCCAGCAGAAGCGGC	0.632000													36	35					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46900038	46900038	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:46900038C>T	ENST00000359759.4	+	10	2632	c.2611C>T	c.(2611-2613)Ccc>Tcc	p.P871S	COL18A1_ENST00000355480.5_Missense_Mutation_p.P636S|COL18A1_ENST00000400337.2_Missense_Mutation_p.P456S			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	871	Triple-helical region 2 (COL2).				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)		gcctccagggcccccaggACC	0.652000													17	19					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1732988	1732988	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:1732988C>T	ENST00000313288.4	+	6	1657	c.1551C>T	c.(1549-1551)gcC>gcT	p.A517A		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	517						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)			GGCAGCCTGCCTTGGAGCTGA	0.617000													41	67					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75898081	75898081	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:75898081C>T	ENST00000322507.8	-	8	1303	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	COL12A1_ENST00000483888.2_Missense_Mutation_p.E332K|COL12A1_ENST00000416123.2_Missense_Mutation_p.E332K|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	332					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						TACTCACCTTCTTCTCCACTA	0.368000													56	55					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159276024	159276024	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:159276024C>T	ENST00000368115.1	+	5	677	c.578C>T	c.(577-579)aCt>aTt	p.T193I	FCER1A_ENST00000368114.1_Missense_Mutation_p.T160I	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	193	Ig-like 2.					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)	CTCAACATTACTGTAATAAAA	0.468000													30	63					0	0	1	0	0
TRIM31	11074	broad.mit.edu	37	6	30078227	30078227	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:30078227C>T	ENST00000376734.3	-	4	867	c.742G>A	c.(742-744)Gag>Aag	p.E248K	TRIM31_ENST00000540829.1_Missense_Mutation_p.E248K|TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	248						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GGACTCACCTCCAGCAGCTGC	0.542000													43	107					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26684664	26684664	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:26684664C>T	ENST00000272371.2	-	43	5559	c.5433G>A	c.(5431-5433)aaG>aaA	p.K1811K	OTOF_ENST00000403946.3_Silent_p.K1811K|OTOF_ENST00000338581.6_Silent_p.K1044K|OTOF_ENST00000402415.3_Silent_p.K1121K|OTOF_ENST00000339598.3_Silent_p.K1044K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1811					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)					ACATGGACTCCTTCTTGGAGA	0.602000													67	91					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65792797	65792797	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:65792797G>A	ENST00000312106.5	-	1	1191	c.1054C>T	c.(1054-1056)Cac>Tac	p.H352Y		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	352					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGTGCTACGTGATAGGGGAAG	0.587000													28	32					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5848526	5848526	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:5848526C>T	ENST00000327087.8	-	13	1450	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q	ANO2_ENST00000356134.5_Missense_Mutation_p.R461Q|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000546188.1_Missense_Mutation_p.R461Q			Q9NQ90	ANO2_HUMAN	anoctamin 2	465						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						GTAGCCCAGTCGCATCTGTAG	0.418000													4	7					0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1879826	1879826	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:1879826G>A	ENST00000505790.1	-	5	984	c.528C>T	c.(526-528)atC>atT	p.I176I	IRX4_ENST00000513692.1_Silent_p.I176I|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Silent_p.I176I	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	176					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TGGCCAGCATGATCTTCTCGC	0.642000													38	73					0	0	1	0	0
HECA	51696	broad.mit.edu	37	6	139488168	139488168	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:139488168C>T	ENST00000367658.2	+	2	1304	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	340					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TTCGACACCCCCGTGCAGTTC	0.587000													31	50					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20500617	20500617	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:20500617C>T	ENST00000377252.3	+	10	1922	c.1081C>T	c.(1081-1083)Cgt>Tgt	p.R361C	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.R312C	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	361	PSI.					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						TGGATTTGATCGTCATCGGCA	0.438000													21	23					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20150090	20150090	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:20150090G>A	ENST00000245957.5	+	13	1447	c.1371G>A	c.(1369-1371)cgG>cgA	p.R457R	C20orf26_ENST00000377306.1_Silent_p.R457R|C20orf26_ENST00000451767.2_Silent_p.R457R|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	457										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)		TCTTCCACCGGGCTGGATTGC	0.483000													23	51					0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54344824	54344824	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:54344824C>T	ENST00000306888.2	-	7	1534	c.1283G>A	c.(1282-1284)gGg>gAg	p.G428E	LNX1_ENST00000263925.7_Missense_Mutation_p.G524E|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	524	PDZ 2.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGATGCTCCCCCTGCGACGGT	0.468000													49	74					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38160385	38160385	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:38160385G>A	ENST00000379747.4	-	7	903	c.786C>T	c.(784-786)gcC>gcT	p.A262A	POSTN_ENST00000379743.4_Silent_p.A262A|POSTN_ENST00000541481.1_Silent_p.A262A|POSTN_ENST00000541179.1_Silent_p.A262A|POSTN_ENST00000379742.4_Silent_p.A262A|POSTN_ENST00000379749.4_Silent_p.A262A	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	262	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)		CTCTTCCAAGGGCCTCCAATA	0.453000													25	44					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375835	175375835	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:175375835C>T	ENST00000367674.1	-	3	724	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	TNR_ENST00000263525.2_Missense_Mutation_p.E6K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	6					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)					ACCACTGTTTCCCCATCTGCC	0.532000													89	66					0	0	1	0	0
UAP1L1	91373	broad.mit.edu	37	9	139972890	139972890	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:139972890C>T	ENST00000360271.3	+	1	298	c.62C>T	c.(61-63)tCc>tTc	p.S21F	UAP1L1_ENST00000476184.1_Intron|UAP1L1_ENST00000409858.3_Intron			Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like 1	0							nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CGGCTCTGGTCCGAGCCCCGT	0.701000													5	23					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141730287	141730287	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:141730287C>T	ENST00000475668.2	+	11	1401	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	MGAM_ENST00000549489.2_Silent_p.I449I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	449	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)	AGCTTGTCATCATTGTGGTAT	0.433000													13	22					0	0	1	0	0
ACADS	35	broad.mit.edu	37	12	121164928	121164928	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:121164928C>T	ENST00000242592.4	+	2	297	c.146C>T	c.(145-147)gCc>gTc	p.A49V	ACADS_ENST00000411593.2_Missense_Mutation_p.A49V	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	49						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CGGGACTTTGCCGAGAAGGAG	0.572000													86	129					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661314	4661314	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:4661314C>T	ENST00000357605.2	+	1	370	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGTCTTTTCCTGATGGGCA	0.542000													35	44					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182423429	182423429	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:182423429G>A	ENST00000410087.3	-	5	784	c.684C>T	c.(682-684)gtC>gtT	p.V228V	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Silent_p.V210V|CERKL_ENST00000339098.5_Silent_p.V254V|CERKL_ENST00000374969.2_Intron|CERKL_ENST00000374970.2_Intron	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	254	DAGKc.				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)			CACCAACACAGACAACACTAG	0.398000													21	38					0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48955974	48955974	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:48955974C>T	ENST00000253237.5	+	7	1266	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	345						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GTCTGGTTCCCCAGTGGCCAC	0.647000													32	30					0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111618136	111618136	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:111618136G>A	ENST00000374667.3	-	1	1103	c.75C>T	c.(73-75)ggC>ggT	p.G25G		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	25						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						TGGCGTCAGGGCCGGGCCGTG	0.652000													29	48					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230636299	230636299	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:230636299G>A	ENST00000283943.5	-	38	5697	c.5519C>T	c.(5518-5520)tCg>tTg	p.S1840L	TRIP12_ENST00000389044.4_Missense_Mutation_p.S1888L|TRIP12_ENST00000389045.3_Missense_Mutation_p.S1570L	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1840					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATCTCTGAACGAATCAAATTG	0.373000													28	43					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99251235	99251235	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:99251235A>T	ENST00000268035.6	+	2	1150	c.539A>T	c.(538-540)gAc>gTc	p.D180V	IGF1R_ENST00000558762.1_Missense_Mutation_p.D180V	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	180					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)	GAATGTGGGGACCTGTGTCCA	0.537000													41	63					0	0	1	0	0
CDK19	23097	broad.mit.edu	37	6	110943347	110943347	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:110943347G>A	ENST00000368911.3	-	11	1233	c.1054C>T	c.(1054-1056)Cca>Tca	p.P352S	CDK19_ENST00000323817.3_Missense_Mutation_p.P292S|CDK19_ENST00000413605.2_Missense_Mutation_p.P228S	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	352							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TTGGGGTATGGAATCTGGCAG	0.338000													56	71					0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506312	11506312	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:11506312C>T	ENST00000500254.2	-	4	363	c.326G>A	c.(325-327)gGa>gAa	p.G109E	PRB1_ENST00000546254.1_Missense_Mutation_p.G109E|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	303	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGGTGGTCCTTGTGGCTT	0.612000													123	147					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197398615	197398615	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:197398615C>T	ENST00000367397.1	+	4	1714	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.R793W|CRB1_ENST00000535699.1_Missense_Mutation_p.R881W|CRB1_ENST00000544212.1_Missense_Mutation_p.R386W|CRB1_ENST00000367400.3_Missense_Mutation_p.R905W			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	905	EGF-like 7; 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						TTGCCATTCCCGGTGGGATGA	0.502000													38	112					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111685491	111685491	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:111685491G>A	ENST00000431670.2	+	14	3520	c.3109G>A	c.(3109-3111)Gaa>Aaa	p.E1037K	PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000495180.1_Missense_Mutation_p.E528K|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E994K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E994K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E1021K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E1037K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1037						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						TAGAATAGAAGAAATGGAGAG	0.428000													31	50					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40827983	40827983	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:40827983C>T	ENST00000373198.3	-	17	2689	c.2454G>A	c.(2452-2454)agG>agA	p.R818R	PTPRT_ENST00000373201.1_Silent_p.R786R|PTPRT_ENST00000373193.3_Silent_p.R799R|PTPRT_ENST00000373187.1_Silent_p.R796R|PTPRT_ENST00000373190.1_Silent_p.R796R|PTPRT_ENST00000373184.1_Silent_p.R786R|PTPRT_ENST00000356100.2_Silent_p.R805R	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	796					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)				GCCCCATCTCCCTCTGGGCTC	0.557000													93	144					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559446	129559446	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:129559446C>T	ENST00000422113.2	-	9	2600	c.2274G>A	c.(2272-2274)gcG>gcA	p.A758A	TMEM132D_ENST00000389441.4_Silent_p.A296A	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	758						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTCTGTTTCCGCAGCAATGA	0.478000													30	61					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431097	135431097	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:135431097C>T	ENST00000394143.1	+	6	5523	c.5232C>T	c.(5230-5232)atC>atT	p.I1744I	GPR112_ENST00000370652.1_Silent_p.I1744I|GPR112_ENST00000287534.4_Silent_p.I1681I|GPR112_ENST00000412101.1_Silent_p.I1539I|GPR112_ENST00000394141.1_Silent_p.I1539I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1744					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)					ATTCCAGAATCACTGTTCCTG	0.418000													81	18					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39217564	39217564	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:39217564T>G	ENST00000399820.3	+	11	1219	c.1065T>G	c.(1063-1065)gaT>gaG	p.D355E	WDR19_ENST00000288634.7_Missense_Mutation_p.D195E|WDR19_ENST00000506503.1_Missense_Mutation_p.D355E	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	355					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TACTTGGGGATGCCTGCAGCA	0.478000													17	25					0	0	1	0	0
BCAT1	586	broad.mit.edu	37	12	25034302	25034302	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:25034302A>G	ENST00000261192.7	-	4	849	c.323T>C	c.(322-324)aTt>aCt	p.I108T	BCAT1_ENST00000342945.5_Intron|BCAT1_ENST00000538118.1_Missense_Mutation_p.I107T|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539780.1_Intron|BCAT1_ENST00000539282.1_Missense_Mutation_p.I120T	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	108					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	AAACAGTCGAATTTTATTATC	0.398000													21	42					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874255	36874255	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:36874255G>A	ENST00000301807.6	-	21	6934	c.5037C>T	c.(5035-5037)ttC>ttT	p.F1679F	TRANK1_ENST00000429976.2_Silent_p.F2229F|TRANK1_ENST00000428977.2_Silent_p.F1679F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2229					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						AATGCTTAGGGAAAAGGACAT	0.368000													29	61					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895343	42895343	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:42895343C>T	ENST00000399770.2	+	1	60	c.60C>T	c.(58-60)atC>atT	p.I20I		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	20					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						GGTTTCGGATCGCGTCCTCTC	0.507000													51	85					0	0	1	0	0
TM6SF1	53346	broad.mit.edu	37	15	83784653	83784653	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:83784653G>A	ENST00000322019.9	+	3	527	c.253G>A	c.(253-255)Gat>Aat	p.D85N	TM6SF1_ENST00000379386.4_Missense_Mutation_p.D85N|TM6SF1_ENST00000379390.6_Missense_Mutation_p.D85N|TM6SF1_ENST00000565774.1_Missense_Mutation_p.D85N|TM6SF1_ENST00000564988.1_3'UTR			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	85						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACTGGAGCAAGATGGAATCAT	0.433000													20	31					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15733127	15733127	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:15733127C>T	ENST00000441682.2	+	0	685							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						AATGCATCTTCAGCTTTGACA	0.572000													22	35					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544594	82544594	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:82544594G>A	ENST00000423517.2	-	7	13045	c.12708C>T	c.(12706-12708)ctC>ctT	p.L4236L	PCLO_ENST00000437081.1_Silent_p.L956L|PCLO_ENST00000333891.8_Silent_p.L4236L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4167	Ser-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						CATCTTGAAGGAGCCTTGCCC	0.398000													17	37					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54933881	54933881	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:54933881C>T	ENST00000474759.1	+	27	2483	c.2435C>T	c.(2434-2436)tCt>tTt	p.S812F	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.S718F|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.S812F|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.S812F	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	812						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)		GAACGGAAATCTCCTGTGGTG	0.448000													7	11					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578371	7578371	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:7578371C>T	ENST00000420246.2	-	5	691	c.559_splice	c.e5+1	p.G187_splice	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Splice_Site_p.G187_splice|TP53_ENST00000445888.2_Splice_Site_p.G187_splice|TP53_ENST00000359597.4_Splice_Site_p.G187_splice|TP53_ENST00000455263.2_Splice_Site_p.G187_splice|TP53_ENST00000269305.4_Splice_Site_p.G187_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	187	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> C (in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G187S(14)|p.0?(8)|p.?(2)|p.V173fs*59(2)|p.G187fs*16(2)|p.G187C(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*60(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGCTGCTCACCATCGCTATCT	0.637000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	33					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863568	55863568	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55863568C>T	ENST00000327335.4	-	1	354	c.355G>A	c.(355-357)Gat>Aat	p.D119N	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	119					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						ACATAGCGATCATAGGACAGA	0.398000													31	48					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090595	91090595	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:91090595G>A	ENST00000373094.1	+	1	937	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	PCDH11X_ENST00000406881.1_Missense_Mutation_p.R31Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R31Q|PCDH11X_ENST00000504220.1_Missense_Mutation_p.R31Q|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R31Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R31Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R31Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R31Q|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R31Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	31	Cadherin 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						TACACCATCCGAGAAGAAATG	0.493000													57	6					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167055231	167055231	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:167055231C>T	ENST00000375387.4	-	27	6261	c.5921G>A	c.(5920-5922)aGa>aAa	p.R1974K	SCN9A_ENST00000409672.1_Missense_Mutation_p.R1962K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1973K|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1974K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1973						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)	CTTTTCTGTTCTGTCTTGTTC	0.368000													11	16					0	0	1	0	0
C22orf31	25770	broad.mit.edu	37	22	29456683	29456683	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:29456683A>T	ENST00000216071.4	-	2	203	c.152T>A	c.(151-153)aTt>aAt	p.I51N		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	51										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						TGGGGCATTAATGTTCTGCTT	0.493000													73	19					0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15605946	15605946	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	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													35	73					0	0	1	0	0
GPR31	2853	broad.mit.edu	37	6	167571311	167571311	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:167571311G>A	ENST00000366834.1	-	1	506	c.9C>T	c.(7-9)ttC>ttT	p.F3F		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	3						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGCAGTTTGGGAATGGCATCA	0.602000													6	10					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749181	22749181	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:22749181C>T	ENST00000511446.1	+	0	552				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	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			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTCCGGGTATCCCTCACTTTG	0.433000													52	81					0	0	1	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43831670	43831670	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:43831670C>T	ENST00000420765.1	-	30	3679	c.3497G>A	c.(3496-3498)tGg>tAg	p.W1166*	PPIP5K1_ENST00000396923.3_Nonsense_Mutation_p.W1166*|PPIP5K1_ENST00000360135.4_Nonsense_Mutation_p.W1099*|PPIP5K1_ENST00000334933.4_Nonsense_Mutation_p.W1141*|PPIP5K1_ENST00000381879.4_Nonsense_Mutation_p.W1142*|PPIP5K1_ENST00000381885.1_Nonsense_Mutation_p.W1162*|PPIP5K1_ENST00000360301.4_Nonsense_Mutation_p.W1141*|PPIP5K1_ENST00000348806.6_Nonsense_Mutation_p.W1099*	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1166					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						TTACTTACACCAAGGGGGCTT	0.517000													6	5					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099125	169099125	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:169099125G>A	ENST00000494292.1	-	2	322	c.225C>T	c.(223-225)ccC>ccT	p.P75P	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	75							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						CAGCAGGAATGGGGATATCAT	0.473000													43	68					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32955605	32955605	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:32955605C>T	ENST00000321639.5	+	4	1080	c.752C>T	c.(751-753)aCc>aTc	p.T251I		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	251						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)		AAGGGTGTGACCCTTTTAGGT	0.597000													12	16					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9764483	9764483	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:9764483G>A	ENST00000262441.5	+	8	1466	c.953G>A	c.(952-954)tGg>tAg	p.W318*	GLP2R_ENST00000574745.1_Nonsense_Mutation_p.W138*	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	318					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)	GTTGTACCCTGGGGTTTCGCC	0.512000													51	76					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20150059	20150059	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:20150059C>T	ENST00000245957.5	+	13	1416	c.1340C>T	c.(1339-1341)aCc>aTc	p.T447I	C20orf26_ENST00000377306.1_Missense_Mutation_p.T447I|C20orf26_ENST00000451767.2_Missense_Mutation_p.T447I|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	447										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)		AACACCTGCACCCTCGAGCAG	0.483000													5	70					0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053443	11053443	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:11053443C>T	ENST00000295082.1	+	1	1381	c.891C>T	c.(889-891)atC>atT	p.I297I		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	297						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TCATGCGCATCGCGCGCATCT	0.647000													14	12					0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60866818	60866818	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:60866818C>T	ENST00000313733.3	+	13	1511	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	OSBPL2_ENST00000358053.2_Missense_Mutation_p.R425W|OSBPL2_ENST00000439951.2_Silent_p.S303S|OSBPL2_ENST00000471817.1_3'UTR	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	437					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)			ACGGAGGGAGCGGGCCAAGGA	0.632000													22	37					0	0	1	0	0
CTSO	1519	broad.mit.edu	37	4	156864334	156864334	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:156864334G>A	ENST00000433477.3	-	2	287	c.218C>T	c.(217-219)tCc>tTc	p.S73F		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	73					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		AAACAAATAGGAAAACTGATT	0.313000													62	92					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97073455	97073455	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:97073455G>A	ENST00000524981.3	+	7	994	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K				Q6ZTY8	CL063_HUMAN		306										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGAGACACTGGAAAAATCCAA	0.438000													60	86					0	0	1	0	0
C12orf68	387856	broad.mit.edu	37	12	48578238	48578238	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:48578238C>G	ENST00000316554.3	+	1	873	c.333C>G	c.(331-333)ttC>ttG	p.F111L		NM_001013635.3	NP_001013657.3	Q52MB2	CL068_HUMAN	chromosome 12 open reading frame 68	111						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						AGGGGAGCTTCCAGAGCGACC	0.662000													13	15					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24880379	24880379	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:24880379G>A	ENST00000313367.2	-	14	1876	c.1425C>T	c.(1423-1425)gtC>gtT	p.V475V	OSBPL3_ENST00000396431.1_Silent_p.V444V|OSBPL3_ENST00000353930.1_Silent_p.V439V|OSBPL3_ENST00000409069.1_Silent_p.V408V|OSBPL3_ENST00000352860.1_Silent_p.V444V|OSBPL3_ENST00000396429.1_Silent_p.V439V|OSBPL3_ENST00000431825.2_Silent_p.V408V	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	475					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TTATGTCACTGACATATGAGT	0.299000													20	25					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179638751	179638751	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179638751C>T	ENST00000589042.1	-	31	7368	c.7144G>A	c.(7144-7146)Gaa>Aaa	p.E2382K	TTN_ENST00000591111.1_Missense_Mutation_p.E2382K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E2336K|TTN_ENST00000342175.6_Missense_Mutation_p.E2336K|TTN_ENST00000342992.6_Missense_Mutation_p.E2382K|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E2336K|TTN_ENST00000360870.5_Missense_Mutation_p.E2382K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2105	Ig-like 13.						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)			TCCACACTTTCCAAGGAGACT	0.468000													57	65					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240374523	240374523	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:240374523G>A	ENST00000319653.9	+	6	4283	c.4053G>A	c.(4051-4053)acG>acA	p.T1351T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1351	FH2.				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)			TCTCAAAGACGAAGGCTAAAC	0.338000													32	99					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74327562	74327562	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:74327562C>T	ENST00000268059.6	+	8	1856	c.1760C>T	c.(1759-1761)tCc>tTc	p.S587F	PML_ENST00000354026.6_Missense_Mutation_p.S539F|PML_ENST00000268058.3_Intron|PML_ENST00000569477.1_Silent_p.L600L|PML_ENST00000569965.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000395135.3_Intron|PML_ENST00000359928.4_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	39					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCAGCCCACTCCTCGCCAGCC	0.642000			T	"""RARA, PAX5"""	"""APL, ALL"""								39	136					0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165351035	165351035	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:165351035C>T	ENST00000263915.3	-	13	1921		c.e13-1		GRB14_ENST00000543549.1_Splice_Site|GRB14_ENST00000497306.1_Intron	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14						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						CAAGAAAACTCTAAAGAGAGA	0.328000													27	37					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057934	53057934	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:53057934C>T	ENST00000359798.4	+	5	1945	c.1765C>T	c.(1765-1767)Cat>Tat	p.H589Y		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TCGTAGACTTCATACTGGAGA	0.368000													53	65					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050037	42050037	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:42050037G>A	ENST00000372584.1	-	3	1446	c.432C>T	c.(430-432)ctC>ctT	p.L144L	HIVEP3_ENST00000429157.2_Silent_p.L144L|HIVEP3_ENST00000372583.1_Silent_p.L144L|HIVEP3_ENST00000247584.5_Silent_p.L144L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	144					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)				GGGAAGGAAGGAGCTGGCTCT	0.612000													21	172					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814526	106814526	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:106814526G>A	ENST00000407775.2	+	8	2466	c.2216G>A	c.(2215-2217)aGa>aAa	p.R739K	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R470K|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R607K|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R607K	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	739					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)			CGCAAGCGCAGAAAGATGTAT	0.507000													17	29					0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130131072	130131072	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:130131072G>A	ENST00000525842.1	-	2	1064	c.697C>T	c.(697-699)Cct>Tct	p.P233S	ZBTB44_ENST00000357899.4_Missense_Mutation_p.P233S|ZBTB44_ENST00000530205.1_Missense_Mutation_p.P233S|ZBTB44_ENST00000397753.1_Missense_Mutation_p.P233S	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	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;0.0192)|Lung(977;0.235)		ATTCCAAAAGGAAAAGTCCAA	0.423000													25	29					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11737961	11737961	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:11737961G>A	ENST00000262442.3	+	49	9321	c.9253G>A	c.(9253-9255)Gat>Aat	p.D3085N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D3085N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3085	Stalk (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)		GCAGGTGGATGATCTGAAAGC	0.517000													14	14					0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	171867950	171867950	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:171867950G>A	ENST00000442919.2	-	14	1820	c.1205C>T	c.(1204-1206)cCa>cTa	p.P402L	TLK1_ENST00000434911.2_Missense_Mutation_p.P354L|TLK1_ENST00000360843.3_Missense_Mutation_p.P471L|TLK1_ENST00000521943.1_Missense_Mutation_p.P402L|TLK1_ENST00000431350.2_Missense_Mutation_p.P450L	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	450					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						ATTTAATGTTGGGTGATCTTT	0.318000													25	40					0	0	1	0	0
NDUFV1	4723	broad.mit.edu	37	11	67376146	67376146	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:67376146C>T	ENST00000322776.6	+	3	432	c.279C>T	c.(277-279)ttC>ttT	p.F93F	NDUFV1_ENST00000529927.1_Silent_p.F84F|NDUFV1_ENST00000415352.2_Silent_p.F86F|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000532303.1_5'UTR	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	93					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)	GCGCTGGCTTCCCCACTGGCC	0.612000													54	85					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117146392	117146392	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:117146392G>A	ENST00000369486.3	-	6	2243	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L	IGSF3_ENST00000369483.1_Missense_Mutation_p.S513L|IGSF3_ENST00000318837.6_Missense_Mutation_p.S513L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	493	Ig-like C2-type 4.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CAGGCTGAACGAGTTGGGCTG	0.607000													29	99					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65491422	65491422	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:65491422G>A	ENST00000261883.4	-	9	1368	c.1202C>T	c.(1201-1203)cCt>cTt	p.P401L		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	401					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						TGGGTTGCAAGGAGTCTCATC	0.468000													24	28					0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722360	58722360	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:58722360C>T	ENST00000300079.5	+	5	447	c.397C>T	c.(397-399)Caa>Taa	p.Q133*	GLYATL1_ENST00000317391.4_Nonsense_Mutation_p.Q102*|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	102						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)	ACAGAGACTCCAAATCCAAGG	0.398000													27	34					0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57648631	57648631	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:57648631G>A	ENST00000402412.1	-	24	3288	c.2898C>T	c.(2896-2898)tcC>tcT	p.S966S	R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000403821.2_Silent_p.S986S|R3HDM2_ENST00000393811.2_Silent_p.S679S|R3HDM2_ENST00000358907.2_Silent_p.S952S|R3HDM2_ENST00000441731.2_Silent_p.S647S|R3HDM2_ENST00000347140.3_Silent_p.S952S|RP11-123K3.4_ENST00000548184.1_RNA			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	952						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCGACTCACGGAGTTGTTGA	0.557000													31	48					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29867604	29867604	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:29867604G>A	ENST00000399218.4	-	4	1011	c.956C>T	c.(955-957)cCc>cTc	p.P319L	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000269209.6_Missense_Mutation_p.P319L	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		CAGGGTTTCGGGCCAGCTCTC	0.532000													70	45					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41758290	41758290	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:41758290C>T	ENST00000301178.4	+	15	1936	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	AXL_ENST00000359092.3_Silent_p.F573F|AXL_ENST00000593513.1_Silent_p.F314F	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	582	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TGGAGGATTTCCTGAGTGAAG	0.572000													25	35					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30749732	30749732	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:30749732C>T	ENST00000262518.4	+	34	8756	c.8371C>T	c.(8371-8373)Ccg>Tcg	p.P2791S	SRCAP_ENST00000344771.4_Missense_Mutation_p.P2633S|SRCAP_ENST00000395059.2_Missense_Mutation_p.P2729S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2791	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)			CCCGGGAAGCCCGTCTGTCCG	0.662000													37	44					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46793098	46793098	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:46793098C>T	ENST00000230588.4	+	8	655	c.646C>T	c.(646-648)Cct>Tct	p.P216S		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)			GCACTACCAGCCTTTCTCATT	0.438000													34	105					0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94353008	94353008	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:94353008C>T	ENST00000299001.6	+	18	2462	c.2251C>T	c.(2251-2253)Cca>Tca	p.P751S	PIWIL4_ENST00000537419.1_Missense_Mutation_p.P102S|RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	751	Piwi.				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACAGAACCCCCCACTTGGCAC	0.443000													14	58					0	0	1	0	0
OTP	23440	broad.mit.edu	37	5	76932975	76932975	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:76932975C>T	ENST00000306422.3	-	2	1256	c.118G>A	c.(118-120)Ggc>Agc	p.G40S		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	40						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)		CCCGGATGGCCCCCGGGGTCG	0.692000													5	3					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16458322	16458322	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:16458322G>A	ENST00000358432.5	-	14	2523	c.2369C>T	c.(2368-2370)tCc>tTc	p.S790F		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	790	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				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)	CTTCCGGTAGGAAATGGCCTC	0.632000													12	3					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185074738	185074738	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:185074738G>A	ENST00000296741.2	-	2	531	c.390C>T	c.(388-390)gcC>gcT	p.A130A		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	130					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CCTTCCTTTTGGCCTTGGTCA	0.483000													19	30					0	0	1	0	0
SBK2	646643	broad.mit.edu	37	19	56041145	56041145	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:56041145G>A	ENST00000413299.1	-	4	1039	c.1002C>T	c.(1000-1002)ggC>ggT	p.G334G	SBK2_ENST00000344158.3_Silent_p.G334G	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	334							ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCTCCGCCTCGCCCTCCCGCT	0.731000													12	13					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106118213	106118213	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:106118213G>A	ENST00000369704.3	+	2	258	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	42										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATTTCGGATTGAATATGAGAG	0.388000													35	33					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61994510	61994510	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:61994510C>T	ENST00000280772.1	-	8	1024	c.833G>A	c.(832-834)aGa>aAa	p.R278K	ANK3_ENST00000373827.2_Missense_Mutation_p.R272K|ANK3_ENST00000503366.1_Missense_Mutation_p.R261K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	278					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						TGCATTTCCTCTTTTTGATGC	0.368000													12	23					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120155	12120155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:12120155G>T	ENST00000379388.2	+	4	459	c.127G>T	c.(127-129)Gaa>Taa	p.E43*		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	43					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)				AGGAACTTCGGAATCCCTTAA	0.353000													74	187					4.49761e-31	4.58392e-31	1	1	0
ELTD1	64123	broad.mit.edu	37	1	79386028	79386028	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:79386028C>T	ENST00000370742.3	-	10	1364	c.1301G>A	c.(1300-1302)gGa>gAa	p.G434E		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	434					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)		AATAATTATTCCTAGTTGAGT	0.308000													32	73					0	0	1	0	0
ZNF252P	286101	broad.mit.edu	37	8	146225113	146225113	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:146225113G>A	ENST00000426361.2	-	0	120					NR_023392.1															endometrium(1)	1						AGGAAACCACGATGTGGAATG	0.532000													5	7					0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90784826	90784826	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:90784826C>T	ENST00000558017.1	+	4	1106	c.686C>T	c.(685-687)cCc>cTc	p.P229L	GDPGP1_ENST00000329600.6_Missense_Mutation_p.P229L	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	229					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										CACAGACTGCCCGTGGAGCAG	0.632000													18	37					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904830	73904830	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:73904830C>T	ENST00000342056.2	+	15	2947	c.2549C>T	c.(2548-2550)tCt>tTt	p.S850F	KCNQ5_ENST00000414165.2_Missense_Mutation_p.S721F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S822F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S841F|KCNQ5_ENST00000370398.1_Missense_Mutation_p.S831F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.S832F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S831F	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	831					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.S831F(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AAATCTTTGTCTGTGCAAAAC	0.488000													29	43					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177937101	177937101	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:177937101G>A	ENST00000308284.6	-	2	105	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	SEC16B_ENST00000464631.1_Missense_Mutation_p.P6S|RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.P6S	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	6					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						AGCCTCTGGGGAGCCCAAAGT	0.498000													7	51					0	0	1	0	0
REL	5966	broad.mit.edu	37	2	61118849	61118849	+	Silent	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:61118849A>G	ENST00000295025.7	+	2	362	c.42A>G	c.(40-42)gaA>gaG	p.E14E	REL_ENST00000394479.3_Silent_p.E14E	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	14	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AGATAATTGAACAACCCAGGC	0.413000			A		Hodgkin Lymphoma								34	58					0	0	1	0	0
TACSTD2	4070	broad.mit.edu	37	1	59041972	59041972	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:59041972A>G	ENST00000371225.2	-	1	1194	c.857T>C	c.(856-858)gTg>gCg	p.V286A		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	286					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					gacgagggccaccacgaccac	0.602000													8	23					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53674968	53674968	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:53674968C>T	ENST00000262135.4	-	19	3028	c.2935G>A	c.(2935-2937)Gat>Aat	p.D979N	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.D979N|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.D979N|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.D979N	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	979					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GGCATGATATCCACGAAAGAT	0.343000													21	32					0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16843819	16843819	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:16843819G>A	ENST00000437538.2	-	3	322	c.314C>T	c.(313-315)cCg>cTg	p.P105L	TNFRSF13B_ENST00000581616.2_Intron|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.P151L|TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.P105L			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	151					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						CTTCAGCCCCGGGAGAGCTGC	0.622000									IgA Deficiency, Selective				12	16					0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203512	84203512	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:84203512G>A	ENST00000378553.5	+	8	1202	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	DNAAF1_ENST00000334315.5_Missense_Mutation_p.E360K|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	360					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CGCCAGTGCGGAAGGCAAGGA	0.532000													21	41					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81593145	81593145	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:81593145G>A	ENST00000548058.1	+	9	2186	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	ACSS3_ENST00000261206.3_Missense_Mutation_p.E425K|ACSS3_ENST00000548324.1_Missense_Mutation_p.E108K			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	426						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						TGTGGCTGGAGAACGATGTGA	0.343000													24	23					0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	86990745	86990745	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:86990745C>T	ENST00000331536.3	+	5	465	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	CROT_ENST00000419147.2_Missense_Mutation_p.R122C|CROT_ENST00000442291.1_Missense_Mutation_p.R94C	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	94			R -> H (in dbSNP:rs3827653).		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)	TCTGGATGTTCGTATACCATC	0.403000													37	65					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17708551	17708551	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:17708551G>A	ENST00000434762.2	+	0	693							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		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;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TACCTCCAAGGAAGAGTCGAA	0.517000													27	7					0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49055521	49055521	+	Silent	SNP	C	C	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:49055521C>G	ENST00000201586.2	+	1	190	c.12C>G	c.(10-12)ccC>ccG	p.P4P		NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	4					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)		TGGACGGGCCCGCCGAGCCCC	0.672000													10	13					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163051247	163051247	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:163051247G>A	ENST00000188790.4	-	17	1621	c.1414C>T	c.(1414-1416)Ccc>Tcc	p.P472S	FAP_ENST00000443424.1_Missense_Mutation_p.P447S	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	472					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						GTGGAAATGGGGATGCCTGGG	0.443000													25	49					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85066330	85066330	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:85066330C>T	ENST00000335459.5	-	3	992	c.787G>A	c.(787-789)Gtg>Atg	p.V263M	TRABD2A_ENST00000409520.2_Missense_Mutation_p.V312M|TRABD2A_ENST00000409133.1_Missense_Mutation_p.V312M	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		AGGGCCTTCACCCGCTTCCCT	0.537000													19	41					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107090072	107090072	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:107090072C>T	ENST00000392842.1	+	8	1095	c.681C>T	c.(679-681)ttC>ttT	p.F227F	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Silent_p.F236F|RFX4_ENST00000229387.5_Silent_p.F133F	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	227					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						TTCAAAGTTTCCTTCTGCACT	0.547000													46	38					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23509642	23509642	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:23509642G>A	ENST00000296682.3	+	3	315	c.133G>A	c.(133-135)Gac>Aac	p.D45N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	45	KRAB-related.				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						AGAGATGGGAGACTGGGAGAA	0.433000										HNSCC(3;0.000094)			83	98					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17417904	17417904	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:17417904C>T	ENST00000470360.1	+	11	1600	c.1483C>T	c.(1483-1485)Ccc>Tcc	p.P495S	SLC7A2_ENST00000494857.1_Missense_Mutation_p.P456S|SLC7A2_ENST00000004531.10_Missense_Mutation_p.P496S|SLC7A2_ENST00000522656.1_Missense_Mutation_p.P456S|SLC7A2_ENST00000398090.3_Missense_Mutation_p.P495S			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	456					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)	GGGATCGTCTCCCAGGGTAAC	0.517000													35	43					0	0	1	0	0
FAM219A	203259	broad.mit.edu	37	9	34405955	34405955	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:34405955G>A	ENST00000445726.1	-	2	374	c.68C>T	c.(67-69)gCc>gTc	p.A23V	FAM219A_ENST00000379081.1_Missense_Mutation_p.A11V|FAM219A_ENST00000297620.4_Missense_Mutation_p.A23V|FAM219A_ENST00000379089.1_Missense_Mutation_p.A22V|FAM219A_ENST00000379080.1_Missense_Mutation_p.A11V|FAM219A_ENST00000379084.1_Missense_Mutation_p.A22V|FAM219A_ENST00000379078.1_Missense_Mutation_p.A22V|FAM219A_ENST00000379087.1_Missense_Mutation_p.A22V	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	CI025_HUMAN	family with sequence similarity 219, member A	23																	GGAGGCGGCGGCTGGGTCCTG	0.582000													25	7					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47233932	47233932	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:47233932C>T	ENST00000300404.2	+	5	704	c.645C>T	c.(643-645)ctC>ctT	p.L215L	B4GALNT2_ENST00000393354.2_Silent_p.L155L|B4GALNT2_ENST00000504681.1_Silent_p.L129L	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	215					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)			CTCCAGGCCTCCAGTTTGAAG	0.562000													35	53					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28711771	28711771	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:28711771T>C	ENST00000257197.3	-	15	2534	c.2273A>G	c.(2272-2274)aAc>aGc	p.N758S	RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.N758S	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	758					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)			GTCACAAATGTTGGATGTCTG	0.378000													39	105					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101353867	101353867	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:101353867C>T	ENST00000344327.3	-	5	1747	c.1323G>A	c.(1321-1323)atG>atA	p.M441I	TRPC6_ENST00000348423.4_Missense_Mutation_p.M325I|TRPC6_ENST00000360497.4_Missense_Mutation_p.M386I|TRPC6_ENST00000532133.1_Missense_Mutation_p.M441I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	441					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)		CTACAAACTTCATGAATGGTC	0.403000													26	30					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814337	106814337	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:106814337C>T	ENST00000407775.2	+	8	2277	c.2027C>T	c.(2026-2028)cCc>cTc	p.P676L	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P407L|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P544L|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P544L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	676					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)			CCCAGTGTCCCCTTAGTGGAT	0.428000													19	26					0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45535846	45535846	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:45535846C>T	ENST00000221452.8	+	9	1196	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	RELB_ENST00000505236.1_Missense_Mutation_p.S346F|RELB_ENST00000540120.1_Missense_Mutation_p.S349F	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	349	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)		GCTGACTTCTCCCAGGCCGAC	0.597000													6	14					0	0	1	0	0
VMP1	81671	broad.mit.edu	37	17	57851153	57851153	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:57851153C>T	ENST00000262291.4	+	7	931	c.621C>T	c.(619-621)ttC>ttT	p.F207F	VMP1_ENST00000536180.1_Silent_p.F110F|VMP1_ENST00000545362.1_Silent_p.F151F|VMP1_ENST00000539763.1_Silent_p.F15F|VMP1_ENST00000537567.1_Silent_p.F73F	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	207					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						CTCCATATTTCATGGCCAGAG	0.438000													24	33					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55120037	55120037	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:55120037C>T	ENST00000370862.3	+	3	842	c.506C>T	c.(505-507)gCc>gTc	p.A169V		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	169					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)			GCAAAGCGGGCCCGTAACAGC	0.507000													47	83					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171080110	171080110	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:171080110G>A	ENST00000367755.4	+	6	910	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	FMO3_ENST00000392085.2_Missense_Mutation_p.E267K|FMO3_ENST00000542847.1_Missense_Mutation_p.E247K|FMO3_ENST00000538429.1_Missense_Mutation_p.E204K	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	267					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)					ATTCAAGCATGAAAACTATGG	0.438000													54	117					0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951160	30951160	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:30951160G>A	ENST00000402321.1	-	3	1369	c.1052C>T	c.(1051-1053)gCc>gTc	p.A351V	GAL3ST1_ENST00000443111.2_Missense_Mutation_p.A351V|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.A351V|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.A351V|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.A351V|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.A351V|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.A351V			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	351					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GGCGTCCACGGCGTGGCCCCC	0.701000													14	10					0	0	1	0	0
ACOT9	23597	broad.mit.edu	37	X	23723131	23723131	+	Silent	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:23723131T>A	ENST00000379303.5	-	14	1214	c.1086A>T	c.(1084-1086)tcA>tcT	p.S362S	ACOT9_ENST00000336430.7_Silent_p.S353S|ACOT9_ENST00000379295.1_Silent_p.S293S	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	353					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						GAAAGAGCAATGAGCCAACCT	0.403000													44	5					0	0	1	0	0
C5orf20	140947	broad.mit.edu	37	5	134782703	134782703	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:134782703C>T	ENST00000503143.2	-	1	335	c.96G>A	c.(94-96)ggG>ggA	p.G32G	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	32						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGGGGTTTCCCCACCAGCTC	0.592000													10	16					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57329149	57329149	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:57329149C>T	ENST00000326441.9	-	9	1190	c.827G>A	c.(826-828)aGa>aAa	p.R276K	PEG3_ENST00000598410.1_Missense_Mutation_p.R152K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R276K|PEG3_ENST00000593695.1_Missense_Mutation_p.R150K|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	276					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)		TCTCTTGGATCTTGATGAGTG	0.517000													13	16					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128114656	128114656	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:128114656G>A	ENST00000284694.7	-	8	2085	c.1965C>T	c.(1963-1965)atC>atT	p.I655I	C10orf90_ENST00000356858.3_Silent_p.I608I|C10orf90_ENST00000544758.1_Silent_p.I752I|C10orf90_ENST00000454341.1_Silent_p.I558I|C10orf90_ENST00000480379.1_Silent_p.I59I	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	655										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AGTTATCATAGATTCTGAAAC	0.428000													21	41					0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054151	67054151	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:67054151C>T	ENST00000295568.4	+	3	813	c.682C>T	c.(682-684)Cca>Tca	p.P228S	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000469661.1_3'UTR|KBTBD8_ENST00000417314.2_Missense_Mutation_p.P254S	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	254	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)		AGAGAAAATTCCACCTCAGTT	0.413000													51	57					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13258986	13258986	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:13258986T>A	ENST00000276297.4	-	3	1575	c.1166A>T	c.(1165-1167)cAc>cTc	p.H389L	DLC1_ENST00000316609.5_Missense_Mutation_p.H389L|DLC1_ENST00000511869.1_Missense_Mutation_p.H389L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	389					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						CACAGGAACGTGCCGCCGCAG	0.488000													15	37					0	0	1	0	0
HSD17B4	3295	broad.mit.edu	37	5	118860982	118860982	+	Splice_Site	SNP	T	T	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:118860982T>G	ENST00000504811.1	+	19	1832		c.e19+2		HSD17B4_ENST00000522415.1_Splice_Site|HSD17B4_ENST00000509514.1_Splice_Site|HSD17B4_ENST00000513628.1_Splice_Site|HSD17B4_ENST00000510025.1_Splice_Site|HSD17B4_ENST00000414835.2_Splice_Site|HSD17B4_ENST00000515320.1_Splice_Site|HSD17B4_ENST00000256216.6_Splice_Site	NM_001199291.1	NP_001186220.1	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)	GTCTAGCAGGTGAGTTGTCTT	0.353000													19	32					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30254666	30254666	+	Missense_Mutation	SNP	G	G	A	rs78126822		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:30254666G>A	ENST00000359358.4	-	9	2279	c.1841C>T	c.(1840-1842)gCc>gTc	p.A614V		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	614						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGTCACACAGGCAGGGCCTGC	0.468000													147	120					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170723000	170723000	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:170723000C>T	ENST00000523189.1	+	27	3316	c.3152C>T	c.(3151-3153)tCc>tTc	p.S1051F	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1051					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGAACCTGTCCGTCAAGAAC	0.507000			T	TRD@	ALL								31	27					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39450282	39450282	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:39450282G>A	ENST00000257408.4	+	5	3208	c.3111G>A	c.(3109-3111)aaG>aaA	p.K1037K		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	1037					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						TACCATTAAAGAAAGGCAAGA	0.368000													32	58					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161495333	161495333	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:161495333C>T	ENST00000309758.4	+	1	1298	c.885C>T	c.(883-885)ttC>ttT	p.F295F		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	295					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCGTGGACTTCTACACGTCCA	0.652000													24	22					0	0	1	0	0
LYZL4	131375	broad.mit.edu	37	3	42448729	42448729	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:42448729C>T	ENST00000287748.3	-	2	290	c.15G>A	c.(13-15)gtG>gtA	p.V5V	LYZL4_ENST00000470991.1_Intron|LYZL4_ENST00000441172.1_Silent_p.V5V	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	5					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		GGGAGAGAACCACGGATGCCT	0.557000													15	37					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106899195	106899195	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:106899195G>A	ENST00000369701.3	+	8	1480	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	418						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)		GTGTCTTATCGAAGAGAGGCC	0.502000													42	61					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196716270	196716270	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:196716270G>A	ENST00000367429.4	+	22	3763	c.3523G>A	c.(3523-3525)Gaa>Aaa	p.E1175K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1175	Sushi 20.				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						AGAAATTATGGAAAATTATAA	0.333000													90	57					0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167663357	167663357	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:167663357G>A	ENST00000367854.3	+	5	623	c.292G>A	c.(292-294)Gct>Act	p.A98T	RCSD1_ENST00000537350.1_Missense_Mutation_p.A68T	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	98										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)					CTTTGACCCAGCTGCTCTACT	0.512000													24	71					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43698696	43698696	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:43698696C>T	ENST00000405312.3	-	5	1276	c.1039G>A	c.(1039-1041)Gga>Aga	p.G347R	PSG4_ENST00000433626.2_Missense_Mutation_p.G254R|PSG4_ENST00000244295.9_Missense_Mutation_p.G254R	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	347	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)				AGGTTTTCTCCTGAACGGTAA	0.483000													101	143					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26509846	26509846	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:26509846G>A	ENST00000361530.6	+	8	839	c.694G>A	c.(694-696)Gac>Aac	p.D232N	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000374253.5_Missense_Mutation_p.D232N			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	232	PDZ.				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)		GGTTCCCACTGACTCCCGACT	0.632000													79	41					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936693	4936693	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:4936693G>A	ENST00000322013.3	-	1	229	c.201C>T	c.(199-201)ttC>ttT	p.F67F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATGGACAGGAAGAGATACA	0.478000													26	31					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329201	152329201	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:152329201C>T	ENST00000388718.5	-	3	1133	c.1061G>A	c.(1060-1062)gGa>gAa	p.G354E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	354	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)			AGCTCCATATCCTCTCTGACT	0.507000													119	97					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22952122	22952122	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:22952122G>A	ENST00000397104.3	-	2	70	c.71C>T	c.(70-72)tCg>tTg	p.S24L	ZNF99_ENST00000596209.1_Missense_Mutation_p.S3L					zinc finger protein 99									p.S24W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAATGTCAACGATCCCTGAAA	0.388000													27	47					0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801498	9801498	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9801498C>T	ENST00000457674.2	-	5	1199	c.681G>A	c.(679-681)ggG>ggA	p.G227G	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGAAGGATTTCCCATGTTTCT	0.348000													23	29					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17040363	17040363	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:17040363C>T	ENST00000357277.3	+	3	686	c.515C>T	c.(514-516)tCc>tTc	p.S172F	REPS2_ENST00000303843.7_Missense_Mutation_p.S172F|REPS2_ENST00000380064.4_Missense_Mutation_p.S33F	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	172					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)					GAAAAAAATTCCTTCAAAAGA	0.393000													18	32					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955621	18955621	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:18955621G>A	ENST00000302797.3	-	1	935	c.711C>T	c.(709-711)ttC>ttT	p.F237F		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	237					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						ATAAAAATAGGAAAAACTGAA	0.488000													31	31					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	819555	819555	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:819555C>T	ENST00000293892.3	-	16	3034	c.3035G>A	c.(3034-3036)gGg>gAg	p.G1012E	MSLNL_ENST00000442466.1_Missense_Mutation_p.G661E			Q96KJ4	MSLNL_HUMAN	mesothelin-like	661					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						GATGCAAGTCCCCCAGTGCAG	0.632000													40	5					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190270	209190270	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:209190270C>T	ENST00000264380.4	+	20	2893	c.2735C>T	c.(2734-2736)cCc>cTc	p.P912L		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						GGTTCCATCCCCTGGGATCCT	0.502000													35	59					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184922264	184922264	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:184922264G>A	ENST00000231887.3	-	6	925	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	EHHADH_ENST00000456310.1_Missense_Mutation_p.P188S	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	284	3-hydroxyacyl-CoA dehydrogenase.					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)	GCTCCGGAGGGAGTTGACCAC	0.493000													45	63					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972505	92972505	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:92972505C>T	ENST00000523629.1	-	12	2234	c.1780G>A	c.(1780-1782)Gga>Aga	p.G594R	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.G567R|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.G557R|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.G557R|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.G567R|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.G557R|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.G605R|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.G594R	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)	594					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)			GAAGGGGTTCCCGGGGTGGTT	0.592000													5	6					0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242253243	242253243	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:242253243C>T	ENST00000442594.2	-	11	1757	c.1248G>A	c.(1246-1248)ccG>ccA	p.P416P	PLD5_ENST00000536534.1_Silent_p.P508P|PLD5_ENST00000427495.1_Silent_p.P446P	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	508						integral to membrane	catalytic activity	p.P508P(1)|p.P416P(1)		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)			TTGAGCAGTTCGGCTGTTTGG	0.453000													87	217					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51220117	51220117	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:51220117G>A	ENST00000293441.1	-	1	78	c.60C>T	c.(58-60)ccC>ccT	p.P20P	SHANK1_ENST00000391814.1_Silent_p.P20P|SHANK1_ENST00000359082.3_Silent_p.P20P	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	20					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)		AGCCCCCCTCGGGACACTCGC	0.731000													5	2					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	159992876	159992876	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:159992876C>T	ENST00000327245.5	-	26	4816	c.3970G>A	c.(3970-3972)Ggg>Agg	p.G1324R		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1324					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)			AGAGACTTCCCACAAGTTCCT	0.418000													47	78					0	0	1	0	0
KCTD14	65987	broad.mit.edu	37	11	77728004	77728004	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:77728004G>A	ENST00000353172.5	-	2	447	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	KCTD14_ENST00000533144.1_Missense_Mutation_p.R105W	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	135						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AACTGCTTCCGAGACACCTGC	0.557000													24	50					0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151786028	151786028	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:151786028G>A	ENST00000356728.6	-	6	1093	c.939C>T	c.(937-939)ttC>ttT	p.F313F	RORC_ENST00000318247.6_Silent_p.F334F|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Silent_p.F388F	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	334	Ligand-binding.				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			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCTCTTGGCGAACTCCACCA	0.612000													31	52					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83378568	83378568	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:83378568G>A	ENST00000566620.1	+	6	1028	c.738G>A	c.(736-738)cgG>cgA	p.R246R	CDH13_ENST00000428848.3_Silent_p.R207R|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Silent_p.R293R	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	246	Cadherin 2.		R -> W (in a patient with amyotrophic lateral sclerosis).		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)		CGATCTTTCGGGAAGGCCCCT	0.507000													46	63					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50611760	50611760	+	Silent	SNP	C	C	T	rs74987565	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:50611760C>T	ENST00000444124.2	-	2	224	c.24G>A	c.(22-24)agG>agA	p.R8R	DDC_ENST00000380984.4_Silent_p.R8R|DDC_ENST00000357936.5_Silent_p.R8R|DDC_ENST00000426377.1_Silent_p.R8R|DDC_ENST00000431062.1_Silent_p.R8R	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	8					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)	CCTTCCCTCTCCTTCGGAATT	0.522000													86	103					0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532287	40532287	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:40532287C>T	ENST00000297737.6	-	5	659	c.513G>A	c.(511-513)aaG>aaA	p.K171K	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	171						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TTGCCGCATTCTTTTTGTGTT	0.468000													82	132					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236735822	236735822	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:236735822A>G	ENST00000366582.3	-	26	3710	c.3596T>C	c.(3595-3597)gTt>gCt	p.V1199A	HEATR1_ENST00000366581.2_Missense_Mutation_p.V1118A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1199					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)			AGAACCTCCAACTTCCTGAAC	0.388000													38	75					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35229048	35229048	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:35229048G>A	ENST00000381318.3	+	30	3958	c.3670G>A	c.(3670-3672)Gac>Aac	p.D1224N	ITSN1_ENST00000381285.4_Missense_Mutation_p.D1224N|ITSN1_ENST00000399367.3_Missense_Mutation_p.D1219N|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.D1219N	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1224					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			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						AGGGTGTTCAGACTTACATCT	0.493000													28	38					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114837332	114837332	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:114837332G>A	ENST00000310346.4	-	4	1014	c.348C>T	c.(346-348)ttC>ttT	p.F116F	TBX5_ENST00000526441.1_Silent_p.F116F|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Silent_p.F116F|TBX5_ENST00000349716.5_Silent_p.F66F	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	116					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)		TATTATCTGCGAATTTGTATC	0.448000													74	60					0	0	1	0	0
FGF20	26281	broad.mit.edu	37	8	16850796	16850796	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:16850796C>T	ENST00000180166.5	-	3	569	c.421G>A	c.(421-423)Gag>Aag	p.E141K		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	141					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCAAACTGCTCCCTAAAGATG	0.348000													70	101					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039421	11039421	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:11039421C>T	ENST00000470054.1	-	0	782									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)		TTTTCCAATTCGGTATTCACT	0.279000													13	188					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117314740	117314740	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:117314740C>T	ENST00000321322.6	-	21	3905	c.3904G>A	c.(3904-3906)Gag>Aag	p.E1302K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1032K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1242	Ig-like C2-type 10.				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)		GGACTCGTCTCGTACTCGCTG	0.642000													13	26					0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31805913	31805913	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:31805913G>A	ENST00000405650.1	-	0	223							P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GTGCCCCAAGGGCGACCAAAG	0.701000													8	13					0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98254427	98254427	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:98254427C>T	ENST00000265634.3	+	3	1002	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	279	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CCAACGAGATCGTGCTGATCG	0.637000													43	65					0	0	1	0	0
UGT1A3	54659	broad.mit.edu	37	2	234638043	234638043	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:234638043C>T	ENST00000482026.1	+	1	290	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_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)		TGAATTTGATCGCCATGTGCT	0.428000													66	103					0	0	1	0	0
SLC2A11	66035	broad.mit.edu	37	22	24219284	24219284	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:24219284C>T	ENST00000345044.6	+	5	730	c.462C>T	c.(460-462)ctC>ctT	p.L154L	AP000350.10_ENST00000433835.3_Silent_p.L119L|SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000405847.1_Silent_p.L154L|SLC2A11_ENST00000398356.2_Silent_p.L161L|SLC2A11_ENST00000316185.8_Silent_p.L157L			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	154						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						CTAAGGAGCTCCGAGGAGCTG	0.617000													33	11					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47630056	47630056	+	Missense_Mutation	SNP	C	C	T	rs141120293		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:47630056C>T	ENST00000546455.1	+	4	1941	c.1210C>T	c.(1210-1212)Cgt>Tgt	p.R404C	PCED1B_ENST00000432328.1_Missense_Mutation_p.R404C					PC-esterase domain containing 1B									p.R404C(2)									TGGCAGGTATCGTCCCCGTGG	0.592000													26	31					0	0	1	0	0
CXCL12	6387	broad.mit.edu	37	10	44873247	44873247	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:44873247G>A	ENST00000395794.2	-	4	416	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000343575.6_3'UTR|CXCL12_ENST00000374426.2_Intron	NM_001178134.1	NP_001171605.1	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)	GGCCAAAGACGGATCTCACAG	0.612000													8	15					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125828828	125828828	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:125828828C>T	ENST00000393434.2	-	20	2655	c.2306G>A	c.(2305-2307)gGg>gAg	p.G769E	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G779E|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.G668E|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G769E|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	769	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)	CAGTGTGGCCCCTTCCTTCAC	0.632000													22	30					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799827	212799827	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:212799827C>T	ENST00000294829.3	+	1	2039	c.1608C>T	c.(1606-1608)aaC>aaT	p.N536N	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	536										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)		TCAGAGCCAACCTTACTACAA	0.557000													71	53					0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245133	46245133	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:46245133C>T	ENST00000296140.3	-	2	797	c.672G>A	c.(670-672)aaG>aaA	p.K224K	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	224					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TTAGCAGAATCTTTATAATCC	0.418000													43	48					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325932	152325932	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:152325932C>T	ENST00000388718.5	-	3	4402	c.4330G>A	c.(4330-4332)Gaa>Aaa	p.E1444K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1444							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)			TGAGTTTGTTCTTGTGATTGT	0.522000													376	257					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29258408	29258408	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:29258408G>A	ENST00000379558.4	+	17	2655	c.2304G>A	c.(2302-2304)cgG>cgA	p.R768R	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Silent_p.R713R	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	768							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						AGCAGCTACGGGAGCTGACAC	0.662000													3	7					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92730681	92730681	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:92730681G>A	ENST00000379958.2	-	3	4999	c.4730C>T	c.(4729-4731)tCc>tTc	p.S1577F		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1577				S -> P (in Ref. 7; BAA90932).		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)			GCCTCCAATGGAAAATCCCAG	0.383000													45	88					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121239517	121239517	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:121239517A>C	ENST00000297848.3	+	17	2333	c.2063A>C	c.(2062-2064)gAg>gCg	p.E688A	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.E593A|COL14A1_ENST00000309791.4_Missense_Mutation_p.E688A|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	688	Fibronectin type-III 5.				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)			CCCGGTACGGAGTATGAAGTT	0.473000													18	34					0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207305068	207305068	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:207305068C>T	ENST00000367070.3	+	8	1261	c.1067C>T	c.(1066-1068)cCa>cTa	p.P356L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	356	Sushi 5.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						AGATGGACCCCATACCAAGGA	0.373000													32	49					0	0	1	0	0
ADORA2A	135	broad.mit.edu	37	22	24829703	24829703	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:24829703C>T	ENST00000337539.7	+	2	790	c.332_splice	c.e2+1	p.R111_splice	ADORA2A_ENST00000496497.1_Intron|KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA	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	111					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)	CATCCCGCTCCGGTGAGCAGG	0.622000													20	5					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	107937907	107937907	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:107937907A>G	ENST00000280758.5	+	3	2009	c.1481A>G	c.(1480-1482)cAg>cGg	p.Q494R	BTBD11_ENST00000420571.2_Missense_Mutation_p.Q494R|BTBD11_ENST00000490090.2_Missense_Mutation_p.Q494R	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	494						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						GTCAACCTCCAGGTGGAAAGG	0.562000													13	17					0	0	1	0	0
C10orf35	219738	broad.mit.edu	37	10	71391539	71391539	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:71391539G>A	ENST00000373279.4	+	3	199	c.40G>A	c.(40-42)Gac>Aac	p.D14N	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	14						integral to membrane				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CGTGCAGGATGACGACCCCCG	0.602000													6	10					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41327645	41327645	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:41327645G>A	ENST00000551295.2	+	9	1067	c.950G>A	c.(949-951)gGa>gAa	p.G317E	CNTN1_ENST00000547702.1_Missense_Mutation_p.G317E|CNTN1_ENST00000360099.3_Missense_Mutation_p.G317E|CNTN1_ENST00000547849.1_Missense_Mutation_p.G317E|CNTN1_ENST00000348761.2_Missense_Mutation_p.G306E|CNTN1_ENST00000347616.1_Missense_Mutation_p.G317E	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	317	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AACATTAGAGGAAAGGATAAA	0.343000													30	43					0	0	1	0	0
C12orf77	196415	broad.mit.edu	37	12	25148948	25148948	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:25148948C>T	ENST00000549828.1	-	3	404	c.200G>A	c.(199-201)gGg>gAg	p.G67E	C12orf77_ENST00000434912.3_Missense_Mutation_p.G12E|C12orf77_ENST00000549262.1_Missense_Mutation_p.G12E	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	67										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						CTGCACGTTCCCTTGTTTGCT	0.458000													15	36					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541613	96541613	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:96541613C>T	ENST00000371321.3	+	5	760	c.678C>T	c.(676-678)ttC>ttT	p.F226F	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	226					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)	TTGATTATTTCCCGGGAACCC	0.289000													17	33					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29891289	29891289	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:29891289G>A	ENST00000308713.5	-	9	1996	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.S376L|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.S420L|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.S446L	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	490	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGAGGCACGAGAAGGTTGC	0.627000													59	90					0	0	1	0	0
TBC1D20	128637	broad.mit.edu	37	20	428547	428547	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:428547G>A	ENST00000354200.4	-	2	389	c.242C>T	c.(241-243)cCa>cTa	p.P81L		NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	81	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				TATAGGAGGTGGGTCATTGGC	0.507000													32	35					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137323255	137323255	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:137323255C>T	ENST00000367748.1	-	6	1355	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	IL20RA_ENST00000316649.5_Missense_Mutation_p.E368K|IL20RA_ENST00000541547.1_Missense_Mutation_p.E319K			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	368						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)		CAAAAAATTTCCATCAAATGC	0.473000													26	53					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43971025	43971025	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:43971025A>G	ENST00000282406.4	+	23	3562	c.3452A>G	c.(3451-3453)aAc>aGc	p.N1151S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1151	FERM.					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)				AATACTTTGAACCAGGACACA	0.393000													38	54					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49391945	49391945	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:49391945C>T	ENST00000421952.2	-	2	735	c.714G>A	c.(712-714)agG>agA	p.R238R		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	238						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TCCCCAAGGTCCTATGGGGGC	0.657000													24	31					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47228113	47228113	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:47228113G>A	ENST00000391910.3	-	12	2016	c.1566C>T	c.(1564-1566)atC>atT	p.I522I	STRN4_ENST00000539396.1_Silent_p.I396I|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Silent_p.I515I			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	515						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)		TCCAACTATGGATGCAGGCAT	0.582000													23	19					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55321856	55321856	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:55321856C>T	ENST00000314644.2	+	1	74	c.74C>T	c.(73-75)cCa>cTa	p.P25L		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						ACTATGATACCACAAATTGAT	0.343000										HNSCC(20;0.049)			57	72					0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118949307	118949307	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:118949307C>T	ENST00000300793.6	+	13	1995	c.1953C>T	c.(1951-1953)tcC>tcT	p.S651S	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	652					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)		AGGCCATTTCCCTGCTGAAGA	0.542000													17	26					0	0	1	0	0
POLR1C	9533	broad.mit.edu	37	6	43484869	43484869	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:43484869G>A	ENST00000372389.3	+	1	110	c.22G>A	c.(22-24)Gag>Aag	p.E8K	POLR1C_ENST00000372344.2_Missense_Mutation_p.E8K|POLR1C_ENST00000304004.3_Missense_Mutation_p.E8K	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	8					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 dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TCAGGCGGTGGAGGAAATGCG	0.602000													45	117					0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095956	145095956	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:145095956G>A	ENST00000377470.3	+	3	1356	c.1254G>A	c.(1252-1254)gtG>gtA	p.V418V	SPATC1_ENST00000447830.2_Silent_p.V418V	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	418										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGATGGAGGTGGAACGGAAGC	0.652000													30	30					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25777051	25777051	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:25777051C>T	ENST00000377905.4	+	10	1251	c.1132C>T	c.(1132-1134)Cca>Tca	p.P378S	SLC17A4_ENST00000397076.2_Missense_Mutation_p.P176S|SLC17A4_ENST00000439485.2_Missense_Mutation_p.P148S	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	378					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						GGTTCTCTTCCCATCCGTGAT	0.552000													58	175					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33564971	33564971	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:33564971C>T	ENST00000321505.4	+	1	1151	c.971C>T	c.(970-972)cCt>cTt	p.P324L	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P324L|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P324L					KIAA1549-like																		AATCCCCTTCCTTCAGGACCA	0.488000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	96	107					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123274980	123274980	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:123274980C>T	ENST00000264501.4	+	82	14486	c.14113C>T	c.(14113-14115)Cat>Tat	p.H4705Y	KIAA1109_ENST00000388738.3_Missense_Mutation_p.H4705Y			Q2LD37	K1109_HUMAN	KIAA1109	4705					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						CTCCAGTGATCATTCTACATA	0.323000													15	31					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379709	145379709	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:145379709G>A	ENST00000511217.1	+	2	519	c.467G>A	c.(466-468)aGa>aAa	p.R156K	SH3RF2_ENST00000359120.4_Missense_Mutation_p.R156K			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	156	SH3 1.						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)			CTTCTCCGGAGACAGCTTGAT	0.547000													20	53					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65021106	65021106	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:65021106C>T	ENST00000262138.3	+	3	437	c.435C>T	c.(433-435)ttC>ttT	p.F145F		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	145					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)			GCATCCTCTTCGTGGCTGCAG	0.662000													22	23					0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	189028313	189028313	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:189028313C>T	ENST00000345063.3	+	5	785	c.618C>T	c.(616-618)ttC>ttT	p.F206F	TPRG1_ENST00000433971.1_Silent_p.F206F	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	206										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)		GTGAGAAATTCCTTGAAATTT	0.458000													44	66					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209789968	209789968	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:209789968C>T	ENST00000391911.1	-	21	3619	c.3228_splice	c.e21-1	p.G1077_splice	LAMB3_ENST00000367030.3_Splice_Site_p.G1077_splice|LAMB3_ENST00000356082.4_Splice_Site_p.G1077_splice	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	1077	Domain I.				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)		TCTCTCAAATCCCTGAAAAAG	0.463000													52	40					0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75524537	75524537	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:75524537G>A	ENST00000297785.3	-	11	1393	c.1339C>T	c.(1339-1341)Ctg>Ttg	p.L447L		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	447					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CCTGCCTGCAGAGCAGAGGAG	0.388000													37	51					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99266064	99266064	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:99266064T>A	ENST00000375241.1	-	14	1919	c.1468A>T	c.(1468-1470)Att>Ttt	p.I490F	CDC14B_ENST00000463569.1_3'UTR|CDC14B_ENST00000375242.3_Missense_Mutation_p.I453F|CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000375240.3_Missense_Mutation_p.I451F	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	490					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GTCCTTGAAATGGAGAGACTA	0.393000													18	30					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9066986	9066986	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:9066986G>A	ENST00000383836.3	-	14	2064	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.S522F	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	546	Rho-GAP.				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)		TTCCACCTGAGATCCTGGCAC	0.458000			T	RAF1	pilocytic astrocytoma								37	49					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767036	77767036	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:77767036G>A	ENST00000521891.2	+	10	8327	c.7879G>A	c.(7879-7881)Gat>Aat	p.D2627N	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2601N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2582N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2582N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2582						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)			ATACTTGCTGGATTCCAATCC	0.483000										HNSCC(33;0.089)			24	25					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42734577	42734577	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:42734577G>A	ENST00000263805.4	-	7	3714	c.3388C>T	c.(3388-3390)Ccc>Tcc	p.P1130S	ZNF106_ENST00000565380.1_Missense_Mutation_p.P358S|ZNF106_ENST00000565611.1_Missense_Mutation_p.P315S	NM_022473.1	NP_071918.1			zinc finger protein 106																		AGGCTACAGGGAACCTGGTCT	0.443000													30	53					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215789	20215789	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20215789C>T	ENST00000331723.1	+	1	203	c.203C>T	c.(202-204)tCt>tTt	p.S68F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	68					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)		GGTCATCTCTCTTTCATTGAC	0.458000													71	138					0	0	1	0	0
SLC25A30	253512	broad.mit.edu	37	13	45975333	45975333	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:45975333G>A	ENST00000539591.1	-	6	509	c.346C>T	c.(346-348)Ctt>Ttt	p.L116F				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	167					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		TGCGCAGTAAGGGACACACCC	0.433000													16	26					0	0	1	0	0
FRRS1	391059	broad.mit.edu	37	1	100203670	100203670	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:100203670G>A	ENST00000414213.1	-	7	1332	c.731C>T	c.(730-732)tCc>tTc	p.S244F	FRRS1_ENST00000287474.5_Missense_Mutation_p.S244F			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	244	DOMON.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CAATGCAAAGGATAAATAGCC	0.473000													108	74					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176003139	176003139	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:176003139C>T	ENST00000510636.1	+	12	1421	c.1147C>T	c.(1147-1149)Cgc>Tgc	p.R383C	CDHR2_ENST00000506348.1_Missense_Mutation_p.R383C|CDHR2_ENST00000261944.5_Missense_Mutation_p.R383C	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	383	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						TGCCTCCCCCCGCATCCCCAT	0.642000													23	40					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25438320	25438320	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:25438320C>T	ENST00000424208.1	+	0	1179				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						TCCCAATGGTCCCAGGCCAGC	0.582000													18	42					0	0	1	0	0
HLA-DRB1	3123	broad.mit.edu	37	6	32552021	32552021	+	Missense_Mutation	SNP	C	C	T	rs17885257		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:32552021C>T	ENST00000360004.5	-	2	340	c.235G>A	c.(235-237)Gtg>Atg	p.V79M		NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						AGCTCCGTCACCGCCCGGAAC	0.622000										Multiple Myeloma(14;0.17)			11	24					0	0	1	0	0
TPD52L2	7165	broad.mit.edu	37	20	62517393	62517393	+	Silent	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:62517393T>C	ENST00000217121.5	+	6	573	c.501T>C	c.(499-501)ttT>ttC	p.F167F	TPD52L2_ENST00000352482.4_Intron|TPD52L2_ENST00000346249.4_Intron|TPD52L2_ENST00000351424.4_Silent_p.F147F|TPD52L2_ENST00000369927.4_Intron|TPD52L2_ENST00000358548.4_Intron|TPD52L2_ENST00000348257.5_Intron	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	157					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					CACACTCCTTTAGGTAAGGCT	0.582000													20	29					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698526	103698526	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:103698526G>A	ENST00000245312.3	-	6	1600	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	335					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)					CTTATAAAACGATGACTCTGG	0.373000													21	35					0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73347911	73347911	+	Missense_Mutation	SNP	G	G	A	rs146500302		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:73347911G>A	ENST00000377767.4	-	8	1250	c.1150C>T	c.(1150-1152)Cgc>Tgc	p.R384C	DIS3_ENST00000545453.1_Missense_Mutation_p.R222C|DIS3_ENST00000377780.4_Missense_Mutation_p.R354C	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	384					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		GTTTCTATGCGAATTCGAGGG	0.373000										Multiple Myeloma(4;0.011)			31	36					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61443904	61443904	+	Missense_Mutation	SNP	C	C	T	rs143724578		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:61443904C>T	ENST00000395348.3	-	2	782	c.146G>A	c.(145-147)gGa>gAa	p.G49E	SLC16A9_ENST00000490066.1_5'UTR|SLC16A9_ENST00000395347.1_Missense_Mutation_p.G49E	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	49					urate metabolic process	integral to membrane|plasma membrane	symporter activity	p.G49E(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GGCTGTTTTTCCTTTTCCTTC	0.428000													18	106					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587228	42587228	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:42587228G>A	ENST00000289957.2	+	5	906	c.778G>A	c.(778-780)Gat>Aat	p.D260N		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	260					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTTACCTTCGGATGAAGGAGA	0.428000													38	56					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221502	140221502	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140221502C>T	ENST00000531613.1	+	1	596	c.596C>T	c.(595-597)tCc>tTc	p.S199F	PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S199F|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_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													37	47					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102816508	102816508	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:102816508A>G	ENST00000504592.1	+	10	1323	c.905A>G	c.(904-906)cAt>cGt	p.H302R	BANK1_ENST00000322953.4_Missense_Mutation_p.H317R|BANK1_ENST00000428908.1_Missense_Mutation_p.H184R|BANK1_ENST00000508653.1_Missense_Mutation_p.H184R|BANK1_ENST00000444316.2_Missense_Mutation_p.H287R			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	317	DBB.				B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		ATATTCAAACATGAGATACCA	0.299000													19	40					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98154978	98154978	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:98154978G>A	ENST00000357947.3	-	13	1917	c.1692C>T	c.(1690-1692)atC>atT	p.I564I	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	564	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCGCTTTATTGATAGAGCCAT	0.463000													39	64					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065577	9065577	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9065577G>A	ENST00000397910.4	-	3	22072	c.21869C>T	c.(21868-21870)tCc>tTc	p.S7290F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7292	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						ACCAGAGATGGATGTTCTGCT	0.463000													32	62					0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13269245	13269245	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:13269245G>A	ENST00000262487.3	+	4	708	c.702G>A	c.(700-702)ggG>ggA	p.G234G	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	234	TSP type-1.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TCACCTGCGGGAACGGCAACC	0.577000													14	33					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105193573	105193573	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:105193573G>A	ENST00000428173.2	+	27	4666	c.4363G>A	c.(4363-4365)Gaa>Aaa	p.E1455K	NRK_ENST00000540278.1_Intron|NRK_ENST00000243300.9_Missense_Mutation_p.E1454K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1454	CNH.						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						CCAGCCCCTGGAAATCATTAT	0.378000										HNSCC(51;0.14)			29	3					0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139265344	139265344	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:139265344C>T	ENST00000371732.5	-	4	741	c.576G>A	c.(574-576)caG>caA	p.Q192Q	CARD9_ENST00000371734.3_Silent_p.Q192Q|CARD9_ENST00000315908.7_Silent_p.Q192Q	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	192					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TCTCCTCACTCTGGTGCGCCA	0.701000													11	18					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61654281	61654281	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:61654281G>A	ENST00000423902.2	+	2	769	c.290G>A	c.(289-291)gGa>gAa	p.G97E	CHD7_ENST00000525508.1_Missense_Mutation_p.G97E|CHD7_ENST00000524602.1_Missense_Mutation_p.G97E	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	97					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			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)			CCTGGGAACGGACTCGCGTCT	0.532000													19	22					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650834	55650834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:55650834G>A	ENST00000339140.3	+	1	1002	c.690G>A	c.(688-690)tgG>tgA	p.W230*		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	230					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						CCTTTTTCTGGACAGCTCCGG	0.493000													51	8					0	0	1	0	0
KRR1	11103	broad.mit.edu	37	12	75897712	75897712	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:75897712G>A	ENST00000229214.4	-	7	826	c.803C>T	c.(802-804)cCa>cTa	p.P268L	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	268	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TGGTGGGAATGGCGTATATTC	0.343000													61	100					0	0	1	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399515	89399515	+	RNA	SNP	C	C	T	rs2848410		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:89399515C>T	ENST00000479981.1	-	0	214																											AGGGGCTTTCCCTGGTTTCTG	0.512000													66	137					0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75852180	75852180	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:75852180C>T	ENST00000356136.3	+	15	2064	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	UVRAG_ENST00000538870.1_Missense_Mutation_p.S164F|UVRAG_ENST00000531818.1_Missense_Mutation_p.S236F|UVRAG_ENST00000539288.1_Missense_Mutation_p.S236F|UVRAG_ENST00000533454.1_Missense_Mutation_p.S236F|UVRAG_ENST00000532130.1_Missense_Mutation_p.S236F|UVRAG_ENST00000528420.1_Missense_Mutation_p.S507F	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	608					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						CAGGCCGGGTCCGCCAGTGTC	0.612000													24	37					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450723	41450723	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:41450723G>A	ENST00000400454.1	-	26	5079	c.4602C>T	c.(4600-4602)atC>atT	p.I1534I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1534	Fibronectin type-III 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)				GGTCATACAGGATGTAGGACT	0.582000													14	26					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6639326	6639326	+	Silent	SNP	C	C	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:6639326C>A	ENST00000333172.6	+	6	2401	c.2208C>A	c.(2206-2208)ggC>ggA	p.G736G	TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Silent_p.G482G	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	736					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)		TCTACAATGGCCTCCTCTCCA	0.547000													27	10					4.7796e-09	4.81447e-09	1	1	0
TGIF2LY	90655	broad.mit.edu	37	Y	3447612	3447612	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrY:3447612C>T	ENST00000559055.2	+	1	457	c.327C>T	c.(325-327)ctC>ctT	p.L109L	TGIF2LY_ENST00000321217.4_Silent_p.L109L			Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	109						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						GACGCATTCTCCCGGATATGC	0.507000													93	16					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40360866	40360866	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:40360866C>T	ENST00000221347.6	-	33	15549	c.15542G>A	c.(15541-15543)cGa>cAa	p.R5181Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5181	Cys-rich.					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)			CGGCAAGTATCGGCCATTATG	0.582000													31	45					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71212852	71212852	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:71212852C>T	ENST00000393567.2	-	4	510	c.360G>A	c.(358-360)ctG>ctA	p.L120L	HYDIN_ENST00000448089.2_Silent_p.L120L|HYDIN_ENST00000393550.2_Silent_p.L120L|HYDIN_ENST00000448691.1_Silent_p.L120L|HYDIN_ENST00000538248.1_Silent_p.L147L|HYDIN_ENST00000541601.1_Silent_p.L137L|HYDIN_ENST00000321489.5_Silent_p.L120L|HYDIN_ENST00000288168.10_Silent_p.L137L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	120										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)				TCCTCAAAATCAGTGGAACTT	0.398000													54	72					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151970855	151970855	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:151970855G>A	ENST00000355193.2	-	7	1165	c.947C>T	c.(946-948)aCc>aTc	p.T316I	KMT2C_ENST00000262189.6_Missense_Mutation_p.T316I					lysine (K)-specific methyltransferase 2C									p.T316S(2)									ATCCTGAAAGGTGCCGGCTCC	0.433000													16	183					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110007852	110007852	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:110007852C>T	ENST00000453089.2	+	1	1274	c.393C>T	c.(391-393)taC>taT	p.Y131Y	ZC3H12C_ENST00000278590.3_Silent_p.Y162Y|ZC3H12C_ENST00000528673.1_Silent_p.Y163Y			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	162							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TGCGAGAATACCAAACAAAAC	0.378000													20	14					0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101092490	101092490	+	Silent	SNP	G	G	A	rs61756016	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:101092490G>A	ENST00000537026.1	-	15	1415	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	NXF5_ENST00000473265.2_Silent_p.L352L|NXF5_ENST00000361708.2_Silent_p.L352L	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	352	NTF2; truncated.				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						CTGCCCGAGGGAGGAAGCAGG	0.557000													87	15					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38798174	38798174	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:38798174C>T	ENST00000449082.2	-	9	1280	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	427					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)	CCTCCTGCTCCTTCCGGAGCA	0.507000													57	75					0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55794805	55794805	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55794805G>A	ENST00000379665.2	+	1	592	c.493G>A	c.(493-495)Gat>Aat	p.D165N		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						CCTCCAACTGGATTTTTGTGA	0.438000													115	154					0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39722057	39722057	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:39722057C>T	ENST00000280082.3	+	5	1872	c.1673C>T	c.(1672-1674)aCc>aTc	p.T558I	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	0						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TCAGTAGACACCGAAGGGCCT	0.383000													31	39					0	0	1	0	0
SLC37A1	54020	broad.mit.edu	37	21	43999910	43999910	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:43999910C>T	ENST00000352133.2	+	19	2568	c.1586_splice	c.e19+1	p.P529_splice	SLC37A1_ENST00000398341.3_Splice_Site_p.P529_splice			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	529					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GACCAAGTTCCGTAAGTCCCA	0.562000													16	14					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595361	140595361	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140595361G>A	ENST00000341948.4	+	1	1853	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		556	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACGCCAACGACAACTCGCC	0.721000													30	52					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18661491	18661491	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:18661491C>T	ENST00000251296.1	+	4	794	c.411C>T	c.(409-411)ttC>ttT	p.F137F		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	137						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)		GCAACATCTTCCTCAACGTCA	0.592000													18	3					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8132758	8132758	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:8132758G>A	ENST00000315684.8	-	19	3025	c.3018C>T	c.(3016-3018)ccC>ccT	p.P1006P		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1006					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TGTGGGGCAGGGGAATGCTAA	0.527000													62	57					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130025132	130025132	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:130025132C>T	ENST00000011292.3	+	8	1083	c.933C>T	c.(931-933)ctC>ctT	p.L311L	CPA1_ENST00000484324.1_Silent_p.L223L	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	311					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACTCCCAGCTCCTCATGTATC	0.537000													31	48					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913327	6913327	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:6913327G>A	ENST00000299459.2	-	1	503	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCAGGTCATGATGTTAGGGT	0.498000													47	56					0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1321393	1321393	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:1321393G>A	ENST00000381567.3	-	4	361	c.362C>T	c.(361-363)tCc>tTc	p.S121F	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.S121F	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	121	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)				GTGCTTCGGGGAACTGGGTTT	0.537000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								63	88					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33015923	33015923	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:33015923G>A	ENST00000280979.4	+	4	2234	c.2064G>A	c.(2062-2064)aaG>aaA	p.K688K	AKAP6_ENST00000557272.1_Silent_p.K688K|AKAP6_ENST00000557354.1_Silent_p.K688K	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	688					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATGTCAAAAAGAAGCATACAA	0.443000													40	63					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29104445	29104445	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:29104445G>A	ENST00000261590.8	+	7	934	c.725G>A	c.(724-726)aGa>aAa	p.R242K		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	242	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTAGAAGCAAGAGATGGCAAT	0.393000													62	31					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83065799	83065799	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:83065799G>A	ENST00000566620.1	+	3	632	c.342G>A	c.(340-342)ggG>ggA	p.G114G	CDH13_ENST00000446376.2_Silent_p.G114G|CDH13_ENST00000428848.3_Silent_p.G114G|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000565636.1_Silent_p.G114G|CDH13_ENST00000431540.3_Silent_p.G114G|CDH13_ENST00000268613.10_Silent_p.G161G	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	114					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)		TTGTCGGGGGGAAAGACATCC	0.488000													10	13					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152771804	152771804	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:152771804C>T	ENST00000367255.5	-	27	3952	c.3351G>A	c.(3349-3351)agG>agA	p.R1117R	SYNE1_ENST00000367253.4_Silent_p.R1117R|SYNE1_ENST00000448038.1_Silent_p.R1124R|SYNE1_ENST00000413186.2_Silent_p.R1117R|SYNE1_ENST00000341594.5_Silent_p.R1183R|SYNE1_ENST00000423061.1_Silent_p.R1124R|SYNE1_ENST00000367248.3_Silent_p.R1107R|SYNE1_ENST00000265368.4_Silent_p.R1117R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1117					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)		CCATGAGCTTCCTGTAGGTGC	0.517000										HNSCC(10;0.0054)			39	185					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111096	81111096	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:81111096G>A	ENST00000228644.3	+	1	406	c.254G>A	c.(253-255)cGg>cAg	p.R85Q		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	85					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ATGGATCGGCGGAAGGCAGCC	0.627000													31	24					0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168725972	168725972	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:168725972C>T	ENST00000305861.1	+	2	774	c.423C>T	c.(421-423)atC>atT	p.I141I	AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000392690.2_Silent_p.I141I|AC016723.4_ENST00000436982.2_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	141					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						ATGATATCATCGTGGAGGACT	0.453000													33	48					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103183194	103183194	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:103183194C>T	ENST00000424685.2	-	43	6814	c.6655G>A	c.(6655-6657)Gat>Aat	p.D2219N	RELN_ENST00000343529.5_Missense_Mutation_p.D2219N|RELN_ENST00000428762.1_Missense_Mutation_p.D2219N			P78509	RELN_HUMAN	reelin	2219					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)		TGTGATAAATCCAGGTCTCGT	0.398000													41	42					0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55887307	55887307	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:55887307G>A	ENST00000447944.2	-	15	1355	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	423					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGTGCAGCATGAAATTTTTAT	0.284000													10	11					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762051	130762051	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:130762051G>A	ENST00000392429.1	+	2	2862	c.484G>A	c.(484-486)Gat>Aat	p.D162N	TMEM200A_ENST00000296978.3_Missense_Mutation_p.D162N|TMEM200A_ENST00000545622.1_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													32	57					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121412104	121412104	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:121412104G>A	ENST00000275159.6	-	32	3671	c.3672C>T	c.(3670-3672)ttC>ttT	p.F1224F	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Silent_p.F1183F					TBC1 domain family, member 32																		CAGGACCAAGGAAAACACAAG	0.343000													66	80					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116307423	116307423	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:116307423C>T	ENST00000369252.4	-	5	907	c.606G>A	c.(604-606)ggG>ggA	p.G202G	ABLIM1_ENST00000277895.5_Silent_p.G262G|ABLIM1_ENST00000533213.2_Silent_p.G202G	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	262	LIM zinc-binding 2.				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)		TGATGTACTCCCCGGTGAGGA	0.612000													19	36					0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	7165326	7165326	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:7165326A>T	ENST00000381309.3	+	20	3435	c.2870A>T	c.(2869-2871)tAt>tTt	p.Y957F	KDM4C_ENST00000442236.2_Missense_Mutation_p.Y702F|KDM4C_ENST00000536108.1_3'UTR|KDM4C_ENST00000381306.3_Missense_Mutation_p.Y957F|KDM4C_ENST00000428870.2_Missense_Mutation_p.Y644F	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	957	Tudor 2.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GGAGCAAAATATTTTGGATCA	0.463000													34	12					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817454	69817454	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:69817454C>T	ENST00000251566.4	-	1	55	c.25G>A	c.(25-27)Gta>Ata	p.V9I		NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	9						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						AGCAGAAATACCAAAGCTGAC	0.463000													27	44					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161020604	161020604	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:161020604C>T	ENST00000447678.1	-	21	3335	c.3215G>A	c.(3214-3216)gGa>gAa	p.G1072E	LPA_ENST00000316300.5_Missense_Mutation_p.G1072E	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3580	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCAAGTTCTTCCTGTGACAGT	0.483000													131	251					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408872	105408872	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:105408872G>A	ENST00000333244.5	-	7	13035	c.12916C>T	c.(12916-12918)Ccg>Tcg	p.P4306S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4306						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)			CCGAACGACGGCATCTTGAAC	0.597000													164	62					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64515463	64515463	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:64515463C>T	ENST00000371079.1	+	3	639	c.264C>T	c.(262-264)acC>acT	p.T88T	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Silent_p.T88T	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	88	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						CACCTCCCACCATCCGCTGGT	0.542000													74	150					0	0	1	0	0
BSCL2	26580	broad.mit.edu	37	11	62458846	62458846	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:62458846G>T	ENST00000433053.1	-	8	1467	c.911C>A	c.(910-912)gCc>gAc	p.A304D	BSCL2_ENST00000407022.3_Missense_Mutation_p.A240D|BSCL2_ENST00000405837.1_Missense_Mutation_p.A304D|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Missense_Mutation_p.A240D|BSCL2_ENST00000360796.5_Missense_Mutation_p.A304D|BSCL2_ENST00000421906.1_Missense_Mutation_p.A240D|BSCL2_ENST00000278893.7_Intron			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	240					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GAAGTTGCTGGCAACACCTAT	0.552000													27	42					9.39395e-14	9.518e-14	1	1	0
ZIM3	114026	broad.mit.edu	37	19	57646415	57646415	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:57646415C>T	ENST00000269834.1	-	5	1675	c.1290G>A	c.(1288-1290)cgG>cgA	p.R430R		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R430R(1)		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)		GGTTTAATTTCCGGATGAAGG	0.398000													72	86					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38889189	38889189	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:38889189G>A	ENST00000450244.1	-	26	4570	c.4372C>T	c.(4372-4374)Cct>Tct	p.P1458S	SCN11A_ENST00000456224.3_Missense_Mutation_p.P1420S|SCN11A_ENST00000302328.3_Missense_Mutation_p.P1458S			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1458					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.P1458S(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)	AGCGTCGGAGGGAAAGGAATG	0.493000													13	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640795	179640795	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179640795C>T	ENST00000589042.1	-	28	6020	c.5796G>A	c.(5794-5796)agG>agA	p.R1932R	TTN_ENST00000591111.1_Silent_p.R1932R|TTN_ENST00000460472.2_Silent_p.R1886R|TTN_ENST00000342175.6_Silent_p.R1886R|TTN_ENST00000342992.6_Silent_p.R1932R|TTN_ENST00000359218.5_Silent_p.R1886R|TTN_ENST00000360870.5_Silent_p.R1932R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1664							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)			TAAAATCTTCCCTCTGTTGAA	0.443000													109	165					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133876441	133876441	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:133876441G>A	ENST00000285928.2	+	12	1438	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	457	Guanylate kinase-like.						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						TTACTTTGGAGAAGGGGATCG	0.353000													37	62					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55378951	55378951	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:55378951G>A	ENST00000398661.2	-	6	658	c.527C>T	c.(526-528)tCt>tTt	p.S176F	HMGCLL1_ENST00000428842.1_Missense_Mutation_p.S114F|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.S146F|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.S114F|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000508459.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	176							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAAGGATTCAGATGCAGCTCC	0.343000													26	72					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784185	151784185	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:151784185G>A	ENST00000255262.3	-	1	655	c.490C>T	c.(490-492)Ctc>Ttc	p.L164F	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	164					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	p.L164I(1)		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)			AGGATCCTGAGGGCCCGGCGC	0.632000													40	54					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196689091	196689091	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:196689091C>T	ENST00000312428.6	-	49	9279	c.9179G>A	c.(9178-9180)gGg>gAg	p.G3060E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3060	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						ACATGTACTCCCACCCTGCTT	0.393000													37	61					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42480654	42480654	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:42480654C>T	ENST00000545399.1	-	15	2200	c.2047G>A	c.(2047-2049)Gag>Aag	p.E683K	ATP1A3_ENST00000602133.1_Missense_Mutation_p.E640K|ATP1A3_ENST00000302102.5_Missense_Mutation_p.E670K|ATP1A3_ENST00000543770.1_Missense_Mutation_p.E681K	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	670					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						TGCAGGATCTCGTCGATTTGC	0.607000													6	60					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190195314	190195314	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:190195314G>A	ENST00000367462.3	-	6	1090	c.859C>T	c.(859-861)Cca>Tca	p.P287S	FAM5C_ENST00000534846.1_Missense_Mutation_p.P185S|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		287						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)					TTGCATTCTGGAAATTTGGGA	0.438000													48	35					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164750437	164750437	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:164750437C>T	ENST00000264382.3	-	24	2671	c.2609G>A	c.(2608-2610)gGa>gAa	p.G870E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	870	Isomaltase.				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)	TAAGGTAGTTCCTTCCTGATA	0.348000										HNSCC(35;0.089)			23	24					0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239016464	239016464	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:239016464G>A	ENST00000343063.3	+	4	968	c.705G>A	c.(703-705)cgG>cgA	p.R235R	ESPNL_ENST00000409169.1_Silent_p.R235R	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	235										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TCACGGCACGGGACAATGAGG	0.647000													5	4					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683376	6683376	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:6683376C>T	ENST00000321535.4	+	2	319	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	63										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						CCATCACCTTCAGCGGGAGAC	0.507000													47	84					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126241294	126241294	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:126241294G>A	ENST00000394329.3	+	1	3741	c.3728G>A	c.(3727-3729)gGa>gAa	p.G1243E		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1243	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						GGTAATAATGGACTTATTCAC	0.338000													27	32					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233246359	233246359	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:233246359G>T	ENST00000392027.2	+	11	1731	c.1462G>T	c.(1462-1464)Gcc>Tcc	p.A488S	AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	488						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;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)		GGCCTTCGCCGCCTGCCTGGA	0.746000													8	15					1.26484e-09	1.275e-09	1	1	0
SORCS3	22986	broad.mit.edu	37	10	107005301	107005301	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:107005301C>T	ENST00000369701.3	+	21	3097	c.2868_splice	c.e21-1	p.P957_splice	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	957						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)		TTCTTGTAGCCTCTCATCACT	0.453000													56	105					0	0	1	0	0
CENPB	1059	broad.mit.edu	37	20	3765347	3765347	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:3765347A>G	ENST00000379751.4	-	1	1990	c.1784T>C	c.(1783-1785)cTt>cCt	p.L595P		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	595					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						TTGATGTCCAAGACCTCGAAC	0.597000													27	43					0	0	1	0	0
WBP1L	54838	broad.mit.edu	37	10	104572632	104572632	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:104572632C>T	ENST00000369889.4	+	4	715	c.573C>T	c.(571-573)gcC>gcT	p.A191A	WBP1L_ENST00000448841.1_Silent_p.A212A	NM_017787.4	NP_060257.4	Q9NX94	OPA1L_HUMAN	WW domain binding protein 1-like	191						integral to membrane											CCACCAAAGCCCCAGGGATGG	0.627000													27	27					0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758341	5758341	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5758341G>A	ENST00000317121.3	+	1	661	c.595G>A	c.(595-597)Gat>Aat	p.D199N	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	199					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)		CCTGGCTTGTGATGACAGGAG	0.463000													55	49					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22820411	22820411	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:22820411G>A	ENST00000511446.1	+	0	1278				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000508264.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	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			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACTTTGAGTGGAACCAGGGAT	0.408000													18	21					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7709439	7709439	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:7709439C>T	ENST00000338316.4	+	10	1606	c.1517C>T	c.(1516-1518)cCc>cTc	p.P506L	ADCY2_ENST00000537121.1_Missense_Mutation_p.P326L|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	506					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						GCAGCCAAGCCCTTTGCACAC	0.612000													14	29					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38938428	38938428	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:38938428C>T	ENST00000450244.1	-	14	2509	c.2311G>A	c.(2311-2313)Gaa>Aaa	p.E771K	SCN11A_ENST00000456224.3_Missense_Mutation_p.E771K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E771K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E771K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	771					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)	CACATATTTTCGATCCATTCC	0.473000													29	35					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188210949	188210949	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:188210949C>T	ENST00000409998.1	-	16	2129	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	CALCRL_ENST00000410068.1_Missense_Mutation_p.E450K|CALCRL_ENST00000392370.3_Missense_Mutation_p.E450K|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	450						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)			AGAACATTTTCAATATCATGG	0.373000													8	12					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20079400	20079400	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:20079400C>T	ENST00000245957.5	+	8	877	c.801C>T	c.(799-801)ttC>ttT	p.F267F	C20orf26_ENST00000377306.1_Silent_p.F267F|C20orf26_ENST00000451767.2_Silent_p.F267F|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	267								p.F267L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GACTCTGTTTCCCACATCCTG	0.488000													37	52					0	0	1	0	0
KAAG1	353219	broad.mit.edu	37	6	24357871	24357871	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:24357871G>A	ENST00000274766.1	+	1	741	c.4G>A	c.(4-6)Gat>Aat	p.D2N	DCDC2_ENST00000378454.3_Silent_p.I36I	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	2					immune response					central_nervous_system(1)|lung(1)|prostate(1)	3						TCTTCTCATGGATGACGACGC	0.642000													27	79					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141113930	141113930	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:141113930C>T	ENST00000389484.3	-	75	12482	c.11511G>A	c.(11509-11511)atG>atA	p.M3837I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3837	EGF-like 8.				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)		GTCTGTTTTTCATGTTTCTCT	0.353000										TSP Lung(27;0.18)			42	61					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75858121	75858121	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:75858121G>A	ENST00000322507.8	-	22	4549	c.4240C>T	c.(4240-4242)Cga>Tga	p.R1414*	COL12A1_ENST00000483888.2_Nonsense_Mutation_p.R1414*|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.R1414*|COL12A1_ENST00000345356.6_Nonsense_Mutation_p.R250*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1414	Fibronectin type-III 9.				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						ACCTTATATCGATCCACACTG	0.433000													37	49					0	0	1	0	0
DR1	1810	broad.mit.edu	37	1	93812348	93812348	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:93812348T>C	ENST00000370272.3	+	1	904	c.146T>C	c.(145-147)cTt>cCt	p.L49P	DR1_ENST00000370267.1_Missense_Mutation_p.L49P	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN	down-regulator of transcription 1, TBP-binding (negative cofactor 2)	49					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex	sequence-specific DNA binding|TBP-class protein binding|transcription corepressor activity			endometrium(3)|large_intestine(1)	4		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)		TTCATTCACCTTATATCTTCT	0.443000													14	62					0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59189578	59189578	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:59189578G>A	ENST00000302040.4	-	1	871	c.849C>T	c.(847-849)atC>atT	p.I283I		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	283					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						TCACCACGGGGATCACCAAGG	0.483000													26	60					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126139214	126139214	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:126139214G>A	ENST00000299308.3	+	9	3203	c.3195G>A	c.(3193-3195)caG>caA	p.Q1065Q	TMEM132B_ENST00000535886.1_Silent_p.Q577Q	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1065						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGGATTCACAGGACTTTAGAG	0.463000													32	53					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458966	45458966	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:45458966G>A	ENST00000548424.1	+	0	448																											TTTATCAAAAGATCCTTGTAT	0.438000													12	29					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151962208	151962208	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:151962208G>A	ENST00000355193.2	-	8	1317	c.1099C>T	c.(1099-1101)Cat>Tat	p.H367Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.H367Y					lysine (K)-specific methyltransferase 2C									p.H367Y(2)									CACATTCCATGATAGTGCTGA	0.448000													19	336					0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799772	159799772	+	Missense_Mutation	SNP	C	C	G	rs145797656		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:159799772C>G	ENST00000289707.5	+	2	306	c.157C>G	c.(157-159)Ctc>Gtc	p.L53V	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	53						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CTGGCGATCTCTCTGGCCTTC	0.617000													157	132					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329880	152329880	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:152329880C>T	ENST00000388718.5	-	3	454	c.382G>A	c.(382-384)Ggt>Agt	p.G128S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	128							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)			TGTCTGTAACCTGATTTATGT	0.473000													169	98					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117846589	117846589	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:117846589G>A	ENST00000350763.4	-	4	2441	c.2030C>T	c.(2029-2031)aCc>aTc	p.T677I	TNC_ENST00000345230.3_Missense_Mutation_p.T677I|TNC_ENST00000537320.1_Missense_Mutation_p.T677I|TNC_ENST00000423613.2_Missense_Mutation_p.T677I|TNC_ENST00000535648.1_Missense_Mutation_p.T677I|TNC_ENST00000340094.3_Missense_Mutation_p.T677I|TNC_ENST00000346706.3_Missense_Mutation_p.T677I|TNC_ENST00000341037.4_Missense_Mutation_p.T677I|TNC_ENST00000542877.1_Missense_Mutation_p.T677I	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	677	Fibronectin type-III 1.				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						CTGGATGATGGTGGACGTCTG	0.572000													34	56					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136545942	136545942	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:136545942C>T	ENST00000264162.2	-	17	5746	c.5736G>A	c.(5734-5736)ggG>ggA	p.G1912G		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1912					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)		GTTGTGTTTTCCCTTGCTTAG	0.448000													92	164					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169364355	169364355	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:169364355G>A	ENST00000545005.1	-	7	1964	c.1457C>T	c.(1456-1458)tCt>tTt	p.S486F	CCDC181_ENST00000367805.3_Missense_Mutation_p.S486F|BLZF1_ENST00000329281.2_Intron|CCDC181_ENST00000367806.3_Missense_Mutation_p.S487F					coiled-coil domain containing 181																		TAACTGTTTAGAACGCTTAGC	0.393000													32	66					0	0	1	0	0
PPP2R3C	55012	broad.mit.edu	37	14	35576562	35576562	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:35576562C>T	ENST00000261475.5	-	6	874	c.521G>A	c.(520-522)aGa>aAa	p.R174K		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	174						centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		GAGTCCTATTCTTGTTTGATG	0.338000													47	62					0	0	1	0	0
PATE2	399967	broad.mit.edu	37	11	125647340	125647340	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:125647340C>T	ENST00000358524.3	-	4	324	c.279G>A	c.(277-279)acG>acA	p.T93T	PATE2_ENST00000436890.2_Silent_p.T50T	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	93						extracellular space				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						CTACCCTCTTCGTGAACCCCA	0.448000													30	51					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	621069	621069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:621069G>A	ENST00000588649.2	-	10	2713	c.2629C>T	c.(2629-2631)Caa>Taa	p.Q877*		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	877	Mediates interaction with TEFM.				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)		GTCAAGGGTTGGTCCGCGGAG	0.751000													14	24					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95927909	95927909	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:95927909G>A	ENST00000258499.3	-	2	412	c.124C>T	c.(124-126)Ctt>Ttt	p.L42F	USP44_ENST00000537435.2_Missense_Mutation_p.L42F|USP44_ENST00000393091.2_Missense_Mutation_p.L42F|USP44_ENST00000552440.1_Missense_Mutation_p.L42F	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	42					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GAGCAGCTAAGGCAAGCCCAA	0.498000											OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	39					0	0	1	0	0
MYL7	58498	broad.mit.edu	37	7	44180665	44180665	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:44180665C>T	ENST00000223364.3	-	2	38	c.12G>A	c.(10-12)agG>agA	p.R4R	MYL7_ENST00000458240.1_5'UTR	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	4					actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						TCCCCGCCTTCCTGCTGGCCT	0.597000													26	30					0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20110744	20110744	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:20110744G>A	ENST00000381569.1	-	3	1055	c.698C>T	c.(697-699)tCc>tTc	p.S233F	LZTS1_ENST00000265801.6_Missense_Mutation_p.S233F|LZTS1_ENST00000522290.1_Missense_Mutation_p.S233F			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	233					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)		ACCTCCGTCGGAGAAGGACAG	0.627000													36	32					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39564406	39564406	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:39564406G>A	ENST00000265707.5	+	18	2045	c.2000G>A	c.(1999-2001)gGa>gAa	p.G667E	ADAM18_ENST00000541111.1_Missense_Mutation_p.G81E|ADAM18_ENST00000379866.1_Missense_Mutation_p.G643E|ADAM18_ENST00000523755.1_3'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	667					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)			ATTGATGATGGAAATTTTCAG	0.323000													27	37					0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102213	22102213	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:22102213G>A	ENST00000542433.1	-	1	883	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TAAGGTAGATGAAAATACAGG	0.547000													33	33					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17692210	17692210	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:17692210G>A	ENST00000399080.2	-	3	3364	c.3341C>T	c.(3340-3342)cCa>cTa	p.P1114L		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1114	Interaction with RAD51.									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)					AATGCCATGTGGAAAGTGACT	0.323000													3	16					0	0	1	0	0
GID8	54994	broad.mit.edu	37	20	61574527	61574527	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:61574527C>T	ENST00000266069.3	+	3	454	c.307C>T	c.(307-309)Cat>Tat	p.H103Y		NM_017896.2	NP_060366.1			GID complex subunit 8																		TCTTTACTTCCATTTGCAGGT	0.418000													14	72					0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32085407	32085407	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:32085407G>A	ENST00000375201.4	-	13	1525	c.1480C>T	c.(1480-1482)Ctc>Ttc	p.L494F	ATF6B_ENST00000375203.3_Missense_Mutation_p.L497F			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	497					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						TCAGAGGAGAGGAAGAGCTGG	0.592000													27	23					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51908447	51908447	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:51908447C>T	ENST00000371117.3	-	26	3072	c.2797G>A	c.(2797-2799)Gtc>Atc	p.V933I	PKHD1_ENST00000340994.4_Missense_Mutation_p.V933I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	933	IPT/TIG 4.				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)					ACAGAATGGACACAGGGAGTT	0.483000													30	71					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	87217627	87217627	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:87217627C>T	ENST00000441037.2	+	22	3138	c.3043C>T	c.(3043-3045)Ctg>Ttg	p.L1015L	AGBL1_ENST00000389298.3_Silent_p.L746L|AGBL1_ENST00000421325.2_Silent_p.L1015L	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1015					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						TGCAACTCTGCTGAGTGCTGA	0.552000													17	20					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154159300	154159300	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:154159300G>A	ENST00000360256.4	-	14	2965	c.2765C>T	c.(2764-2766)tCc>tTc	p.S922F		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	922	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)	GGGTCCTAAGGAACTTGTATT	0.383000													48	8					0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23244743	23244743	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:23244743G>T	ENST00000397532.3	-	7	1530	c.1005C>A	c.(1003-1005)ttC>ttA	p.F335L	SLC7A7_ENST00000555702.1_Missense_Mutation_p.F335L|SLC7A7_ENST00000397528.4_Missense_Mutation_p.F335L|SLC7A7_ENST00000397529.2_Missense_Mutation_p.F335L|SLC7A7_ENST00000285850.7_Missense_Mutation_p.F335L|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000554517.1_Missense_Mutation_p.F69L			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	335					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGCCCACAAAGAAAAGCCTAT	0.512000													33	40					5.60225e-13	5.66999e-13	1	1	0
OR51L1	119682	broad.mit.edu	37	11	5021013	5021013	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5021013G>A	ENST00000321543.1	+	1	801	c.801G>A	c.(799-801)ggG>ggA	p.G267G		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCGCTTTGGGAAGCATCTGT	0.463000													33	31					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112666033	112666033	+	Silent	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:112666033A>G	ENST00000550722.1	-	43	6671	c.6276T>C	c.(6274-6276)acT>acC	p.T2092T	HECTD4_ENST00000430131.2_Silent_p.T1816T|HECTD4_ENST00000377560.5_Silent_p.T2066T	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTACCTTCTCAGTAATGGACA	0.468000													17	35					0	0	1	0	0
ARL11	115761	broad.mit.edu	37	13	50204770	50204770	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:50204770G>A	ENST00000282026.1	+	2	522	c.187G>A	c.(187-189)Gac>Aac	p.D63N	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	63					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GACTCTCTGGGACGTTGGGGG	0.592000													35	51					0	0	1	0	0
CYP39A1	51302	broad.mit.edu	37	6	46593244	46593244	+	Splice_Site	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:46593244A>G	ENST00000275016.2	-	7	1045	c.840_splice	c.e7-1	p.V281_splice		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	281					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CCAAAATGCAACCTTAAAAAG	0.328000													26	71					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713720	138713720	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:138713720G>A	ENST00000389532.4	-	11	2851	c.2787C>T	c.(2785-2787)ccC>ccT	p.P929P	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Silent_p.P651P|CAMSAP1_ENST00000409386.3_Silent_p.P940P	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	929						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)		CCGGCCTGAGGGGTGGGGCAG	0.597000													57	67					0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45410265	45410265	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:45410265G>A	ENST00000332700.6	-	4	995	c.824C>T	c.(823-825)cCa>cTa	p.P275L		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	275						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)		TGAAGGACATGGAGAAGGGAA	0.493000													44	67					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55962423	55962423	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:55962423G>A	ENST00000263923.4	-	19	2996	c.2701C>T	c.(2701-2703)Ctt>Ttt	p.L901F		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	901	Protein kinase.				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)	GCACCTAGAAGGTTGACCACA	0.458000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			30	34					0	0	1	0	0
PAX9	5083	broad.mit.edu	37	14	37135774	37135774	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:37135774G>A	ENST00000361487.6	+	3	964	c.739G>A	c.(739-741)Gga>Aga	p.G247R	PAX9_ENST00000557107.1_3'UTR|PAX9_ENST00000554201.1_Missense_Mutation_p.G60R|PAX9_ENST00000402703.2_Missense_Mutation_p.G247R			P55771	PAX9_HUMAN	paired box 9	247					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GTTGGAGAAGGGAGCCCTGGA	0.677000													5	1					0	0	1	0	0
RTP3	83597	broad.mit.edu	37	3	46542052	46542052	+	Missense_Mutation	SNP	G	G	A	rs116177254	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:46542052G>A	ENST00000296142.3	+	2	934	c.362G>A	c.(361-363)cGa>cAa	p.R121Q		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	121					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CTGGTGTTCCGAATTCTGAAG	0.443000													51	85					0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57313775	57313775	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:57313775G>A	ENST00000457912.1	+	6	1197	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	SMTNL1_ENST00000399154.2_Silent_p.K344K|SMTNL1_ENST00000527972.1_Silent_p.K381K			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	381										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GTGGTGTCAAGAACATGCTCT	0.632000													3	11					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36978766	36978766	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:36978766C>T	ENST00000274963.8	+	3	489	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	106	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						AGAAGAAGATCGTCCAGGAGC	0.612000													15	58					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158256915	158256915	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:158256915C>T	ENST00000296526.7	+	10	1684	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	GRIA2_ENST00000507898.1_Silent_p.I406I|GRIA2_ENST00000264426.9_Silent_p.I453I|GRIA2_ENST00000393815.2_Silent_p.I406I|GRIA2_ENST00000449365.1_Silent_p.I406I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	453					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)	CTGCAGAAATCGCCAAACATT	0.443000													17	33					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580853	140580853	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140580853C>T	ENST00000354757.3	+	1	1506	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S	PCDHB11_ENST00000536699.1_Silent_p.S137S	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		502	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)			CCCTCGCCTCCCTGGTCTCCA	0.642000													95	153					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128844930	128844930	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:128844930T>A	ENST00000274487.4	+	3	1035	c.890T>A	c.(889-891)aTt>aAt	p.I297N	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	297					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)		TGTGGTATCATTTCAGGTAAA	0.383000													28	47					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38555128	38555128	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:38555128G>A	ENST00000423485.1	-	26	3508	c.3350C>T	c.(3349-3351)tCc>tTc	p.S1117F		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1117					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	p.S1117C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ATCTGTTACGGAGTCACTCTT	0.353000													19	31					0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44482443	44482443	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:44482443G>A	ENST00000398165.3	-	11	1276	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	CBS_ENST00000544202.1_Silent_p.I251I|CBS_ENST00000398168.1_Silent_p.I339I|CBS_ENST00000359624.3_Silent_p.I339I|CBS_ENST00000398158.1_Silent_p.I339I|CBS_ENST00000352178.5_Silent_p.I339I	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	339					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CCTCTTGCGCGATCAGCATGC	0.667000													6	14					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080073	57080073	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:57080073C>G	ENST00000532437.1	-	4	2400	c.2089G>C	c.(2089-2091)Ggc>Cgc	p.G697R	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G697R			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	697	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTTGCACCGCCACCACTGGGT	0.622000													22	42					0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173883952	173883952	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:173883952C>T	ENST00000367698.3	-	2	265	c.147G>A	c.(145-147)atG>atA	p.M49I	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	49					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	ACATGGGATTCATGGGAATGT	0.572000											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	117	84					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16577670	16577670	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:16577670G>A	ENST00000375592.3	-	10	1865	c.1649C>T	c.(1648-1650)gCc>gTc	p.A550V		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	550										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)		TGGGGAGACGGCCCCTGCAAG	0.597000													38	13					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111976055	111976055	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:111976055G>A	ENST00000374566.3	-	17	2194	c.1677C>T	c.(1675-1677)gcC>gcT	p.A559A		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	559						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						TCTTTAGATGGGCAGCGGCTT	0.507000													37	36					0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71533514	71533514	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:71533514C>T	ENST00000393330.2	-	7	790	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	TSPAN8_ENST00000247829.3_Missense_Mutation_p.E80K|TSPAN8_ENST00000546561.1_Missense_Mutation_p.E80K			P19075	TSN8_HUMAN	tetraspanin 8	80					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CAGCGACTTTCTTTTATAGCA	0.473000													34	208					0	0	1	0	0
ARRDC2	27106	broad.mit.edu	37	19	18119527	18119527	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:18119527G>A	ENST00000222250.4	+	2	425	c.282G>A	c.(280-282)ggG>ggA	p.G94G	ARRDC2_ENST00000595712.1_3'UTR|ARRDC2_ENST00000379656.2_Silent_p.G89G	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	94								p.G89G(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						CAGATACCGGGGAGACCACGA	0.652000													27	40					0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105557937	105557937	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:105557937C>T	ENST00000332180.5	+	31	3293	c.3206C>T	c.(3205-3207)tCa>tTa	p.S1069L	KIAA1033_ENST00000547171.1_3'UTR	NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	1069					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GAGTTTGATTCACTTCACTGG	0.408000													32	49					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32602682	32602682	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:32602682C>T	ENST00000421745.2	+	2	486	c.352C>T	c.(352-354)Cag>Tag	p.Q118*		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	118					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGTGAAATGTCAGTATATCTC	0.353000													22	22					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462137	50462137	+	Missense_Mutation	SNP	C	C	T	rs142292396	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:50462137C>T	ENST00000447370.2	-	7	1216	c.1126G>A	c.(1126-1128)Ggc>Agc	p.G376S	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G376S	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	376	Ig-like C2-type 3.				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)		AGGGATGTGCCGTTCCCGAGG	0.662000													32	59					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87179598	87179598	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:87179598C>T	ENST00000265724.3	-	13	1656	c.1239G>A	c.(1237-1239)ctG>ctA	p.L413L	ABCB1_ENST00000543898.1_Silent_p.L349L	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	413	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)	CCTTCAGGTTCAGACCCTTCA	0.488000													28	30					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43047108	43047108	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:43047108G>A	ENST00000316099.3	+	6	781	c.692G>A	c.(691-693)gGa>gAa	p.G231E	HNF4A_ENST00000415691.1_Missense_Mutation_p.G231E|HNF4A_ENST00000443598.2_Missense_Mutation_p.G231E|HNF4A_ENST00000457232.1_Missense_Mutation_p.G209E	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	231					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCTGCTCGGAGCCACCAAG	0.617000													51	69					0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040298	88040298	+	Silent	SNP	G	G	A	rs141186951		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:88040298G>A	ENST00000319595.4	+	1	453	c.399G>A	c.(397-399)agG>agA	p.R133R		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	133					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)	AGTATGCCAGGAAAAGGACTC	0.433000													19	41					0	0	1	0	0
CBS	875	broad.mit.edu	37	21	44485521	44485521	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:44485521G>A	ENST00000398165.3	-	7	901	c.642C>T	c.(640-642)atC>atT	p.I214I	CBS_ENST00000544202.1_Silent_p.I126I|CBS_ENST00000398168.1_Silent_p.I214I|CBS_ENST00000359624.3_Silent_p.I214I|CBS_ENST00000398158.1_Silent_p.I214I|CBS_ENST00000352178.5_Silent_p.I214I	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	214					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	GAGAATTGGGGATTTCGTTCT	0.627000													28	30					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725311	87725311	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:87725311C>T	ENST00000305344.4	+	2	962	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	HTR1E_ENST00000369584.1_Missense_Mutation_p.R87C	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	87					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)	TGTCATGGATCGCTGGAAGCT	0.572000													50	75					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13876838	13876838	+	Silent	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:13876838T>A	ENST00000265104.4	-	22	3455	c.3351A>T	c.(3349-3351)gtA>gtT	p.V1117V	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1117	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)					AAACTAATTTTACAATCTCTT	0.373000									Kartagener syndrome				31	48					0	0	1	0	0
ZNF268	10795	broad.mit.edu	37	12	133764560	133764560	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:133764560C>T	ENST00000536435.2	+	3	466	c.136C>T	c.(136-138)Cct>Tct	p.P46S	ZNF268_ENST00000536899.2_Intron|ZNF268_ENST00000541211.2_Missense_Mutation_p.P46S|ZNF268_ENST00000541009.2_Missense_Mutation_p.P46S|ZNF268_ENST00000542986.2_Missense_Mutation_p.P46S|ZNF268_ENST00000542711.2_Intron|ZNF268_ENST00000592241.1_Intron|ZNF268_ENST00000537565.1_Intron|ZNF268_ENST00000416488.1_Missense_Mutation_p.P211S|ZNF268_ENST00000228289.5_Missense_Mutation_p.P46S|ZNF268_ENST00000539248.2_Missense_Mutation_p.P46S|CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.P211S	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	46						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)		GCAACCTCTCCCTGGAACACC	0.512000													9	9					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47119686	47119686	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:47119686G>A	ENST00000290341.3	+	9	1358	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E203K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	342	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.E342K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCCGAGCAGGAAATAATGAA	0.517000													43	65					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23641041	23641041	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:23641041G>A	ENST00000261584.4	-	5	2586	c.2434C>T	c.(2434-2436)Ccc>Tcc	p.P812S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	812					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)		GACTCAATGGGTGGAGGTGTT	0.493000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					29	36					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7671494	7671494	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:7671494G>A	ENST00000572933.1	+	24	5310	c.3850G>A	c.(3850-3852)Gaa>Aaa	p.E1284K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E1284K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1284	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)				CCGAAACTGGGAAATTATTGA	0.547000													71	112					0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135371687	135371687	+	Silent	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:135371687G>T	ENST00000368517.3	-	5	333	c.195C>A	c.(193-195)atC>atA	p.I65I	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Silent_p.I65I|SYCE1_ENST00000343131.5_Silent_p.I101I	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	101					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		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)		TTTTGCTCAAGATCTCCTTCA	0.517000													21	32					8.10497e-08	8.1522e-08	1	1	0
KIAA1549	57670	broad.mit.edu	37	7	138602273	138602273	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:138602273G>A	ENST00000440172.1	-	2	2147	c.2099C>T	c.(2098-2100)tCc>tTc	p.S700F	KIAA1549_ENST00000422774.1_Missense_Mutation_p.S700F|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S650F	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	700	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGGCAGCTCGGAACTTGGCTG	0.468000			O	BRAF	pilocytic astrocytoma								27	52					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48623783	48623783	+	Missense_Mutation	SNP	G	G	A	rs142991861		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:48623783G>A	ENST00000328333.8	-	26	3639	c.3532C>T	c.(3532-3534)Cgt>Tgt	p.R1178C	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1178C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1178	Nonhelical region (NC1).|VWFA 2.				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)		TGGGCCTCACGGATGGGGCTG	0.592000													126	151					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56207477	56207477	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:56207477C>T	ENST00000288221.6	-	4	1401	c.1146G>A	c.(1144-1146)atG>atA	p.M382I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	382						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)		TTCCTACCTTCATTTCGATGA	0.453000													16	22					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28828773	28828773	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:28828773G>A	ENST00000422425.2	+	41	3026	c.2982G>A	c.(2980-2982)caG>caA	p.Q994Q	PLB1_ENST00000327757.5_Silent_p.Q1005Q|PLB1_ENST00000541605.1_Intron	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1005	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)					ACCCAAATCAGAAATTCCACT	0.517000													75	100					0	0	1	0	0
SPATA31D3	389762	broad.mit.edu	37	9	84564780	84564780	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:84564780C>T	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							AATCCATGCCCCACAGGAAGC	0.502000													9	12					0	0	1	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20779894	20779894	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20779894G>A	ENST00000398169.3	-	7	1265	c.649C>T	c.(649-651)Cct>Tct	p.P217S	CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.P217S|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.P217S|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.P217S|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.P217S|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.P217S			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	217						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TTATCCAAAGGAAACTTGGAG	0.373000			T	HMGA2	leiomyoma								34	43					0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10265407	10265407	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:10265407G>A	ENST00000254976.2	+	4	361	c.150G>A	c.(148-150)ttG>ttA	p.L50L	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000304886.2_Silent_p.L50L|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	50	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)	TGGTTATGTTGGATGAACAAG	0.353000													29	65					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158487540	158487540	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:158487540C>T	ENST00000355585.4	+	12	1665	c.1590C>T	c.(1588-1590)atC>atT	p.I530I	SYNJ2_ENST00000367122.2_Silent_p.I530I|SYNJ2_ENST00000367121.3_Silent_p.I530I|SYNJ2_ENST00000449859.2_Silent_p.I458I	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	530							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.I530I(1)		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)		TCAAGCGGATCCGGATTGCTA	0.547000													54	54					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97102570	97102570	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:97102570C>T	ENST00000524981.3	+	15	2066	c.2066C>T	c.(2065-2067)cCa>cTa	p.P689L				Q6ZTY8	CL063_HUMAN		663										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CCAAACCTACCAAACTTGGAA	0.358000													32	31					0	0	1	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899737	128899737	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:128899737G>A	ENST00000435159.2	+	2	546	c.546G>A	c.(544-546)cgG>cgA	p.R182R		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	182						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						GAGAGGTGCGGGGCAGCTGCC	0.637000													8	9					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829167	61829167	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:61829167C>T	ENST00000280772.1	-	37	11663	c.11472G>A	c.(11470-11472)gtG>gtA	p.V3824V	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3824					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						ATGAGACTTTCACTGGGTTAT	0.378000													97	131					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54916039	54916039	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:54916039C>T	ENST00000545554.1	+	31	6246	c.6246C>T	c.(6244-6246)cgC>cgT	p.R2082R	UNC13C_ENST00000260323.11_Silent_p.R2082R|UNC13C_ENST00000539562.2_Silent_p.R3R|UNC13C_ENST00000537900.1_Silent_p.R2080R			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2082	C2 2.				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)		CAATGTTCCGCCCCTTTGTGG	0.388000													24	39					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26515119	26515119	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:26515119C>T	ENST00000531191.1	+	18	1854	c.847C>T	c.(847-849)Cat>Tat	p.H283Y	CNKSR1_ENST00000361530.6_Missense_Mutation_p.H541Y|CNKSR1_ENST00000374253.5_Missense_Mutation_p.H548Y			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	548	PDZ.				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)		GAGTCCCCTCCATGGAGACAC	0.637000													8	30					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4567174	4567174	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:4567174C>T	ENST00000360213.1	+	1	754	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	252					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)		CTGTGCCATCCTGATCTTTTA	0.512000													51	71					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993368	140993368	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:140993368G>A	ENST00000285879.4	+	4	464	c.178G>A	c.(178-180)Ggg>Agg	p.G60R	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	60							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)					TCGTTCTGAGGGGGAGGACTC	0.602000										HNSCC(15;0.026)			85	5					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604858	58604858	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:58604858C>T	ENST00000287275.1	-	4	589	c.199G>A	c.(199-201)Gac>Aac	p.D67N	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.D67N	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	67						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TGATCCTGGTCATCTTTCATC	0.368000													32	50					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56952976	56952976	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:56952976C>T	ENST00000504904.3	-	7	2107	c.1388G>A	c.(1387-1389)aGa>aAa	p.R463K	ZNF667_ENST00000342634.3_Missense_Mutation_p.R591K|ZNF667_ENST00000292069.6_Missense_Mutation_p.R463K|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	463					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)		AGTATGAATTCTTTGATGTTC	0.358000													27	44					0	0	1	0	0
OBP2B	29989	broad.mit.edu	37	9	136082624	136082624	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:136082624C>T	ENST00000372034.3	-	4	418	c.377G>A	c.(376-378)gGa>gAa	p.G126E	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_Silent_p.G81G	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)		CACAAGCTTTCCCATGTGGAG	0.622000													17	22					0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96967144	96967144	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:96967144G>A	ENST00000341686.3	+	4	708	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	C10orf129_ENST00000394005.3_Missense_Mutation_p.G195R|C10orf129_ENST00000430183.1_Missense_Mutation_p.G40R	NM_207321.2	NP_997204.2	Q6P461	ACSM6_HUMAN	chromosome 10 open reading frame 129	195					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GAGCTATGATGGGTGGTTGGA	0.423000													42	59					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327691	57327691	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:57327691G>A	ENST00000326441.9	-	10	2482	c.2119C>T	c.(2119-2121)Cat>Tat	p.H707Y	PEG3_ENST00000598410.1_Missense_Mutation_p.H583Y|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H707Y|PEG3_ENST00000593695.1_Missense_Mutation_p.H581Y|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	707					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)		TTTCGAGAATGAATTTTCTGA	0.433000													56	50					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41597792	41597792	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:41597792C>T	ENST00000330436.3	+	5	810	c.810C>T	c.(808-810)tcC>tcT	p.S270S		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	270					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	p.S270S(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TCATCGACTCCTTTCTCATCC	0.592000													24	45					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4926995	4926995	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:4926995C>T	ENST00000396658.4	+	15	3851	c.3148C>T	c.(3148-3150)Cct>Tct	p.P1050S	UBN1_ENST00000262376.6_Missense_Mutation_p.P1050S|UBN1_ENST00000545171.1_Missense_Mutation_p.P1050S|UBN1_ENST00000590769.1_Missense_Mutation_p.P1050S	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1050					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AACCCCTGTCCCTATTCCTGT	0.587000													101	147					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106341	168106341	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:168106341G>A	ENST00000409195.1	+	9	8528	c.8439G>A	c.(8437-8439)ggG>ggA	p.G2813G	XIRP2_ENST00000409273.1_Silent_p.G2591G|XIRP2_ENST00000295237.9_Silent_p.G2813G|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2638					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						CTGACAGAGGGAAACTTCCAG	0.393000													38	57					0	0	1	0	0
PRNP	5621	broad.mit.edu	37	20	4680239	4680239	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:4680239C>T	ENST00000379440.4	+	2	660	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F	PRNP_ENST00000430350.2_Missense_Mutation_p.L125F	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	125	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	GGTGGGGGGCCTTGGCGGCTA	0.562000													39	49					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1405382	1405382	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:1405382G>A	ENST00000381312.1	-	3	1243	c.918C>T	c.(916-918)ttC>ttT	p.F306F		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	306	DRBM 2.				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)		CGGCCATCACGAAGCTCCGCG	0.741000													6	5					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166868650	166868650	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:166868650G>A	ENST00000423058.2	-	19	3865	c.3848C>T	c.(3847-3849)gCc>gTc	p.A1283V	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A1255V|SCN1A_ENST00000375405.3_Missense_Mutation_p.A1272V|SCN1A_ENST00000303395.4_Missense_Mutation_p.A1283V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1283						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)	CCAACACCAGGCATTGGTGAA	0.348000													33	58					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156878754	156878754	+	Missense_Mutation	SNP	A	A	G	rs138582700	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:156878754A>G	ENST00000338302.3	+	12	1562	c.1337A>G	c.(1336-1338)aAc>aGc	p.N446S	PEAR1_ENST00000292357.7_Missense_Mutation_p.N446S			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	446						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)					TACGGTGTCAACTGTTCTGCA	0.582000													70	50					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288886	77288886	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:77288886G>A	ENST00000388914.3	-	11	1543	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	464										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						AGTCAAGGAGGATACTTTTTC	0.413000													22	18					0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37329107	37329107	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:37329107G>A	ENST00000338564.5	-	9	1254	c.808C>T	c.(808-810)Ccg>Tcg	p.P270S	MEIS2_ENST00000561208.1_Missense_Mutation_p.P270S|MEIS2_ENST00000444725.1_Missense_Mutation_p.P270S|MEIS2_ENST00000559085.1_Missense_Mutation_p.P257S|MEIS2_ENST00000397624.3_Missense_Mutation_p.P182S|MEIS2_ENST00000340545.5_Missense_Mutation_p.P257S|MEIS2_ENST00000557796.2_Missense_Mutation_p.P257S|MEIS2_ENST00000424352.2_Missense_Mutation_p.P270S|MEIS2_ENST00000559561.1_Missense_Mutation_p.P270S|MEIS2_ENST00000382766.2_Missense_Mutation_p.P270S|MEIS2_ENST00000219869.9_Missense_Mutation_p.P124S|MEIS2_ENST00000397620.2_Missense_Mutation_p.P182S	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	270	Asp/Glu-rich (acidic).|Poly-Asp.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TCCTTATCCGGATCATCATCG	0.418000													45	63					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	193044321	193044321	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:193044321G>A	ENST00000409056.3	-	4	511	c.512C>T	c.(511-513)tCc>tTc	p.S171F	TMEFF2_ENST00000392314.1_Intron|TMEFF2_ENST00000272771.5_Intron			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	0						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)			ATCTGAAATGGAACATACATA	0.308000													10	20					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113103461	113103461	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:113103461G>A	ENST00000316851.7	+	11	1417	c.1417G>A	c.(1417-1419)Gat>Aat	p.D473N	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.D482N|NCAM1_ENST00000533760.1_Missense_Mutation_p.D355N	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	483	Ig-like C2-type 5.				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)		CTCTGAGAATGATTTTGGGAA	0.448000													23	31					0	0	1	0	0
SH2D4B	387694	broad.mit.edu	37	10	82330031	82330031	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:82330031G>A	ENST00000339284.2	+	2	736	c.306G>A	c.(304-306)gaG>gaA	p.E102E	SH2D4B_ENST00000313455.4_Silent_p.E53E|SH2D4B_ENST00000470604.2_Silent_p.E101E	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	101	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			TGATTGCAGAGAGGGCGCGGC	0.607000													34	37					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17826103	17826103	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:17826103G>A	ENST00000378814.5	-	16	1681	c.1682C>T	c.(1681-1683)cCg>cTg	p.P561L	KIF13A_ENST00000378843.2_Missense_Mutation_p.P561L|KIF13A_ENST00000259711.6_Missense_Mutation_p.P561L|KIF13A_ENST00000378816.5_Missense_Mutation_p.P561L|KIF13A_ENST00000378826.2_Missense_Mutation_p.P561L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	561					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	p.P561Q(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATGCTCTGGCGGGCCCGTTTC	0.418000													49	139					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100085888	100085888	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:100085888C>T	ENST00000423930.1	+	4	703	c.544C>T	c.(544-546)Cca>Tca	p.P182S	NYAP1_ENST00000454988.1_Missense_Mutation_p.P125S|NYAP1_ENST00000300179.2_Missense_Mutation_p.P182S			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	182																	GTCCTGCCCCCCAGGCCCCTC	0.657000													56	69					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55730180	55730180	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:55730180C>T	ENST00000379906.2	+	8	1446	c.1191C>T	c.(1189-1191)acC>acT	p.T397T	SLC6A2_ENST00000568943.1_Silent_p.T397T|SLC6A2_ENST00000561820.1_Silent_p.T397T|SLC6A2_ENST00000567238.1_Silent_p.T292T|SLC6A2_ENST00000414754.3_Silent_p.T397T|SLC6A2_ENST00000566163.1_Silent_p.T352T|SLC6A2_ENST00000219833.8_Silent_p.T397T	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	397					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)	CCATTTCTACCCTGTCTGGAT	0.512000													42	62					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33568446	33568446	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:33568446C>T	ENST00000262873.7	+	6	626	c.534C>T	c.(532-534)tcC>tcT	p.S178S	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	136	Myosin head-like.					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)			ATACGGCCTCCGTAGTGGCTG	0.542000													48	94					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23894155	23894155	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:23894155G>A	ENST00000355349.3	-	22	2664	c.2502C>T	c.(2500-2502)ttC>ttT	p.F834F		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	834					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)		GCTTGATCTTGAAGTAGAGCT	0.542000													36	45					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199350	155199350	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:155199350C>T	ENST00000460012.1	-	23	4732	c.4375G>A	c.(4375-4377)Gac>Aac	p.D1459N	PLCH1_ENST00000334686.6_Missense_Mutation_p.D1459N|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1459N|PLCH1_ENST00000340059.7_Missense_Mutation_p.D1497N|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1497					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)			GATGTTAAGTCCCCCAGACTT	0.453000													30	47					0	0	1	0	0
NCAPH	23397	broad.mit.edu	37	2	97007851	97007851	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:97007851C>T	ENST00000455200.1	+	3	598	c.303C>T	c.(301-303)tcC>tcT	p.S101S	NCAPH_ENST00000427946.1_5'UTR|NCAPH_ENST00000240423.4_Silent_p.S112S			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	112					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AACATTACTCCACCTGTATCA	0.383000													28	31					0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609164	32609164	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:32609164G>A	ENST00000343139.5	+	2	262	c.160G>A	c.(160-162)Gga>Aga	p.G54R	HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.G54R|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.G54R	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	54	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						TGAATTTGATGGAGATGAGCA	0.522000													8	2					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226577	158226577	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158226577G>A	ENST00000289429.5	+	4	1139	c.604_splice	c.e4-1	p.V202_splice		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	202	Ig-like.				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)	CCTTTGCAGTGAAGCCCGAGG	0.488000													71	49					0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14720328	14720328	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:14720328C>T	ENST00000380911.3	-	2	608	c.564G>A	c.(562-564)ggG>ggA	p.G188G		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	188	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		ACCCGCATTTCCCAAAGCAAA	0.448000													17	4					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123517147	123517147	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	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													70	73					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16267245	16267245	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:16267245G>A	ENST00000205557.7	-	21	2712	c.2683C>T	c.(2683-2685)Cct>Tct	p.P895S		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	895					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)		TCCTTCTCAGGGACTGACTTG	0.532000													26	52					0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	426433	426433	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:426433G>A	ENST00000431232.2	-	6	1087	c.927C>T	c.(925-927)acC>acT	p.T309T	TMEM8A_ENST00000250930.3_Silent_p.T116T	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	309					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GGGGCTGGATGGTCACGCTCC	0.647000													7	21					0	0	1	0	0
MKKS	8195	broad.mit.edu	37	20	10393935	10393935	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:10393935G>A	ENST00000347364.2	-	3	990	c.228C>T	c.(226-228)atC>atT	p.I76I		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	76					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						AGGCTGTCAGGATCTTTAAAA	0.443000													47	59					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146256071	146256071	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:146256071G>A	ENST00000367503.3	-	13	3360	c.2962C>T	c.(2962-2964)Cgt>Tgt	p.R988C	SHPRH_ENST00000438092.2_Missense_Mutation_p.R988C|SHPRH_ENST00000367505.2_Missense_Mutation_p.R988C|SHPRH_ENST00000275233.7_Missense_Mutation_p.R988C	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	988					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AACTCTCCACGAACAGCCTGT	0.453000													43	60					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39266512	39266512	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:39266512C>T	ENST00000280481.7	+	1	5247	c.5031C>T	c.(5029-5031)ttC>ttT	p.F1677F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1677					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)		ACTTGGGGTTCATGATCACAA	0.473000													51	45					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62611258	62611258	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:62611258G>A	ENST00000281156.4	-	5	780	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	168					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)		TGTTCCTGACGAATTTCATCA	0.403000													38	49					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200137218	200137218	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:200137218G>A	ENST00000443023.1	-	10	3206	c.1741C>T	c.(1741-1743)Cca>Tca	p.P581S	SATB2_ENST00000260926.5_Missense_Mutation_p.P640S|SATB2_ENST00000457245.1_Missense_Mutation_p.P640S|SATB2_ENST00000428695.1_Missense_Mutation_p.P522S|SATB2_ENST00000417098.1_Missense_Mutation_p.P640S			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	640						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						TCCTGGTCTGGGTACAGGCCT	0.522000													50	55					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615363	179615363	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179615363C>T	ENST00000360870.5	-	46	11986	c.11764G>A	c.(11764-11766)Gaa>Aaa	p.E3922K	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9742							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)			TCCTTCTGTTCGGTTTTGAAT	0.338000													21	30					0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104170521	104170521	+	Silent	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:104170521T>C	ENST00000374861.3	+	3	713	c.429T>C	c.(427-429)ttT>ttC	p.F143F	ZNF189_ENST00000339664.2_Silent_p.F157F|ZNF189_ENST00000259395.4_Silent_p.F115F	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	157					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAAAGGGTTTTGTCCGCAAGG	0.403000													42	42					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108380511	108380511	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:108380511C>A	ENST00000265843.4	-	6	5833	c.5723G>T	c.(5722-5724)gGa>gTa	p.G1908V	EXPH5_ENST00000525344.1_Missense_Mutation_p.G1901V|EXPH5_ENST00000428840.1_Missense_Mutation_p.G1832V|EXPH5_ENST00000443411.1_Missense_Mutation_p.G1720V	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1908					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)		CCATAATCTTCCTTGTGTAAG	0.398000													36	78					1.836e-18	1.8671e-18	1	1	0
RAD54B	25788	broad.mit.edu	37	8	95384472	95384472	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:95384472G>A	ENST00000336148.5	-	15	2783	c.2659C>T	c.(2659-2661)Cct>Tct	p.P887S	RAD54B_ENST00000519348.1_5'UTR	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	234					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)			TCAAGAAAAGGATCTGTAAGA	0.358000								Direct reversal of damage;Homologous recombination					14	25					0	0	1	0	0
C11orf49	79096	broad.mit.edu	37	11	47185762	47185762	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:47185762G>A	ENST00000378618.2	+	9	992	c.940G>A	c.(940-942)Gta>Ata	p.V314I		NM_001003678.1	NP_001003678.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	0										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CTCAGCTTCGGTACCGACGCC	0.637000													14	16					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38610197	38610197	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:38610197C>T	ENST00000222345.6	+	9	3052	c.2543C>T	c.(2542-2544)tCc>tTc	p.S848F		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	848					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)			AACCTCATCTCCCTGACCTCC	0.602000													29	39					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243303361	243303361	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:243303361G>A	ENST00000366542.1	-	16	4159	c.4108C>T	c.(4108-4110)Cca>Tca	p.P1370S	CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000490813.1_Missense_Mutation_p.P79S|CEP170_ENST00000366544.1_Missense_Mutation_p.P1272S|CEP170_ENST00000481987.1_Missense_Mutation_p.P106S|CEP170_ENST00000366543.1_Missense_Mutation_p.P1246S|RP11-261C10.5_ENST00000439562.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1370	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGAACTAATGGAGGAATCTTT	0.423000													48	40					0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50285871	50285871	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:50285871C>T	ENST00000354293.5	+	4	529	c.363C>T	c.(361-363)gcC>gcT	p.A121A	AP2A1_ENST00000600199.1_3'UTR|AP2A1_ENST00000359032.5_Silent_p.A121A	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	121					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)		ATGACCTGGCCAGCCGCAACC	0.617000													10	23					0	0	1	0	0
GCSAM	257144	broad.mit.edu	37	3	111844099	111844099	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:111844099C>T	ENST00000308910.4	-	5	377	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Missense_Mutation_p.E67K	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1			germinal center-associated, signaling and motility																		GACATTCTTTCATCTGGAGAA	0.373000													22	44					0	0	1	0	0
RGS8	85397	broad.mit.edu	37	1	182617391	182617391	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:182617391C>T	ENST00000483095.2	-	6	498	c.241G>A	c.(241-243)Gag>Aag	p.E81K	RGS8_ENST00000367556.1_Missense_Mutation_p.E81K|RGS8_ENST00000258302.4_Missense_Mutation_p.E99K|RGS8_ENST00000367557.4_Missense_Mutation_p.E81K			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	81	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						TCCAGGTTCTCCTCACTGAAC	0.488000													94	274					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068830	9068830	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9068830C>T	ENST00000397910.4	-	3	18819	c.18616G>A	c.(18616-18618)Gat>Aat	p.D6206N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6208	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						TTCAACACATCATTGAGATCA	0.468000													34	75					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252553	46252553	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:46252553C>T	ENST00000510861.1	-	10	1301	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	GABRA2_ENST00000540012.1_Silent_p.P381P|GABRA2_ENST00000356504.1_Silent_p.P376P|GABRA2_ENST00000507069.1_Silent_p.P436P|GABRA2_ENST00000381620.4_Silent_p.P376P|GABRA2_ENST00000514090.1_Silent_p.P376P			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	376					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)	TTGAAAGATTCGGGGCATAAT	0.413000													72	96					0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31479912	31479912	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:31479912T>A	ENST00000373747.3	-	4	569	c.470A>T	c.(469-471)gAa>gTa	p.E157V	PUM1_ENST00000426105.2_Missense_Mutation_p.E157V|PUM1_ENST00000423018.2_Intron|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000257075.5_Missense_Mutation_p.E157V|PUM1_ENST00000440538.2_Missense_Mutation_p.E157V|PUM1_ENST00000373741.4_Missense_Mutation_p.E193V|PUM1_ENST00000373742.2_Intron	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	157					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)		TTTGCTGGATTCATCTGTTTC	0.393000													84	186					0	0	1	0	0
OR3A3	8392	broad.mit.edu	37	17	3324422	3324422	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:3324422C>T	ENST00000291231.1	+	1	561	c.561C>T	c.(559-561)taC>taT	p.Y187Y		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	187					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						ATCACTTCTACTGTGACCTCC	0.577000													33	67					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48697308	48697308	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:48697308G>A	ENST00000544264.1	-	1	3040	c.2760C>T	c.(2758-2760)gaC>gaT	p.D920D	CELSR3_ENST00000164024.4_Silent_p.D920D			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	920	Cadherin 6.				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)		GGTCCTCATAGTCTAATGGGG	0.527000													30	39					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79025527	79025527	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:79025527C>T	ENST00000446378.2	+	2	970	c.939C>T	c.(937-939)tcC>tcT	p.S313S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	313						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)		GATCAGAGTCCCTAACCTTAA	0.423000													28	46					0	0	1	0	0
PRSS45	377047	broad.mit.edu	37	3	46783974	46783974	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:46783974C>T	ENST00000442359.2	-	4	552	c.553G>A	c.(553-555)Ggt>Agt	p.G185S	PRSS50_ENST00000460241.1_Intron	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN	protease, serine, 45	217	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GTGTACACACCTGGATTCTGT	0.547000													62	86					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11049535	11049535	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:11049535G>A	ENST00000470054.1	-	0	573									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)		CACATTCCATGATAGTGCTGA	0.453000													11	158					0	0	1	0	0
TMIGD2	126259	broad.mit.edu	37	19	4298269	4298269	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:4298269C>T	ENST00000301272.2	-	2	165	c.120G>A	c.(118-120)gcG>gcA	p.A40A	TMIGD2_ENST00000595645.1_Silent_p.A40A|TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	40	Ig-like.					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)		AGACCAGGGTCGCCTGACTGC	0.622000													14	11					0	0	1	0	0
SPANXN1	494118	broad.mit.edu	37	X	144337316	144337316	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:144337316G>A	ENST00000370493.3	+	2	960	c.201G>A	c.(199-201)ctG>ctA	p.L67L		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	67										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CAAATCAACTGGAGAATGACC	0.438000													56	6					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231339654	231339654	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:231339654C>T	ENST00000444294.3	+	6	2428	c.1570C>T	c.(1570-1572)Cgt>Tgt	p.R524C	TRIM67_ENST00000366652.2_Missense_Mutation_p.R526C|TRIM67_ENST00000366653.5_Missense_Mutation_p.R526C|TRIM67_ENST00000449018.3_Missense_Mutation_p.R464C	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	526	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ATGCTGCACCCGTAACAACAG	0.662000													8	23					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197870635	197870635	+	Splice_Site	SNP	C	C	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:197870635C>G	ENST00000328737.2	-	21	2132		c.e21-1		ANKRD44_ENST00000450567.1_Splice_Site|ANKRD44_ENST00000282272.8_Splice_Site|ANKRD44_ENST00000337207.5_Splice_Site			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44								protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTGTCATAATCTGATGCATTG	0.448000													53	81					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940513	113940513	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:113940513C>T	ENST00000245796.6	+	2	675	c.480C>T	c.(478-480)atC>atT	p.I160I	PSD4_ENST00000441564.2_Silent_p.I160I|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	160					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						GGGCAGGCATCCTGCAGGCCC	0.607000													37	65					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30627369	30627369	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:30627369C>T	ENST00000376442.3	-	12	2082	c.1887G>A	c.(1885-1887)caG>caA	p.Q629Q	DHX16_ENST00000376437.5_Silent_p.Q148Q|DHX16_ENST00000480966.1_5'UTR	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	629	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GGCAGCGATCCTGGAGCATCT	0.612000													30	19					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20619271	20619271	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:20619271G>A	ENST00000504154.1	+	36	4598	c.4346G>A	c.(4345-4347)cGa>cAa	p.R1449Q	SLIT2_ENST00000503837.1_Missense_Mutation_p.R1445Q|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1462Q|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1441Q	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1449					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						AGCTGTGATCGAGGTAAGCCA	0.512000													7	11					0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19234463	19234463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:19234463C>T	ENST00000562034.1	+	4	4663	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	SYT17_ENST00000568433.1_Nonsense_Mutation_p.Q44*|SYT17_ENST00000562711.2_Nonsense_Mutation_p.Q346*|SYT17_ENST00000355377.2_Nonsense_Mutation_p.Q350*|SYT17_ENST00000568115.1_Nonsense_Mutation_p.Q289*			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	350	C2 1.					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						GCAACTTCTTCAGACAGATGT	0.468000													17	33					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25821553	25821553	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:25821553G>A	ENST00000399878.3	-	8	1422	c.1300C>T	c.(1300-1302)Ccc>Tcc	p.P434S	SEL1L3_ENST00000264868.5_Missense_Mutation_p.P399S|SEL1L3_ENST00000502949.1_Missense_Mutation_p.P281S	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	434						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCAAGGAGGGGATTAAAAATC	0.383000													9	7					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69109499	69109499	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:69109499C>T	ENST00000229179.4	+	12	1394	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	NUP107_ENST00000378905.2_Silent_p.I203I|NUP107_ENST00000539906.1_Silent_p.I325I	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	354					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)			TTACTCTAATCCGTGCTGGAA	0.398000													42	52					0	0	1	0	0
SPESP1	246777	broad.mit.edu	37	15	69237976	69237976	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:69237976C>T	ENST00000310673.3	+	2	257	c.103C>T	c.(103-105)Cat>Tat	p.H35Y	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	35					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						AAACTTGAATCATTATATACA	0.338000													42	62					0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136494986	136494986	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:136494986C>T	ENST00000308191.6	+	9	1066	c.763C>T	c.(763-765)Cga>Tga	p.R255*	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	255	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)	TGGCATGCTTCGAGAATCAAG	0.408000													26	35					0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1275649	1275649	+	Silent	SNP	G	G	A	rs147684126	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:1275649G>A	ENST00000378888.5	-	7	1031	c.747C>T	c.(745-747)atC>atT	p.I249I	DVL1_ENST00000378891.5_Silent_p.I249I			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	249					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGACAGTGACGATGTTGAGGG	0.627000													18	5					0	0	1	0	0
ME2	4200	broad.mit.edu	37	18	48444529	48444529	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:48444529G>A	ENST00000321341.5	+	7	952	c.680G>A	c.(679-681)cGc>cAc	p.R227H	ME2_ENST00000382927.3_Missense_Mutation_p.R227H	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	227					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	AAACGAGATCGCACACAACAG	0.313000													37	35					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70587525	70587525	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:70587525C>T	ENST00000310961.5	+	27	4861	c.4443C>T	c.(4441-4443)ttC>ttT	p.F1481F	LRRC7_ENST00000035383.5_Silent_p.F1523F|LRRC7_ENST00000415775.2_Silent_p.F807F			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1523	PDZ.					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						TGAAGAGTTTCCAGAACACAG	0.323000													66	60					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129618869	129618869	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:129618869C>T	ENST00000421865.2	+	21	2945	c.2896C>T	c.(2896-2898)Ccc>Tcc	p.P966S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	966	Laminin EGF-like 9.				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)		GGGCTGTGTTCCCTGCAACTG	0.463000													20	24					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5624436	5624436	+	Silent	SNP	G	G	A	rs57671285	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:5624436G>A	ENST00000310917.2	-	14	2820	c.2089C>T	c.(2089-2091)Ctg>Ttg	p.L697L	EVC2_ENST00000344938.1_Silent_p.L777L|EVC2_ENST00000344408.5_Silent_p.L777L	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	777						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						TGCTCCTCCAGGATCTGCTGC	0.652000													20	29					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990075	63990075	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:63990075C>T	ENST00000370657.4	-	4	1414	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	461					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)	ACAAGGGCATCTTCTAGTTTT	0.428000													49	51					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119100522	119100522	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:119100522G>A	ENST00000334464.5	-	2	1203	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	322					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)		ACTTTAAGACGGCCTTCAGTA	0.378000													24	35					0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112143933	112143933	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:112143933G>A	ENST00000412145.1	-	20	4823	c.2271_splice	c.e20+1	p.S757_splice	PTPN3_ENST00000446349.1_Splice_Site_p.S712_splice|PTPN3_ENST00000374541.2_Splice_Site_p.S888_splice|PTPN3_ENST00000394827.3_Splice_Site_p.S356_splice|PTPN3_ENST00000262539.3_Splice_Site_p.S734_splice	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	888	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCTACTCACTGATGTCTGCAC	0.512000													26	68					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40827982	40827982	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:40827982C>T	ENST00000373198.3	-	17	2690	c.2455G>A	c.(2455-2457)Gag>Aag	p.E819K	PTPRT_ENST00000373201.1_Missense_Mutation_p.E787K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E800K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E797K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E797K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E787K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E806K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	797					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)				GGCCCCATCTCCCTCTGGGCT	0.557000													95	145					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111495	57111495	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:57111495G>A	ENST00000454682.1	-	3	4100	c.3819C>T	c.(3817-3819)tcC>tcT	p.S1273S	NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_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						CTCCTTTTAGGGAGGGAGGAG	0.647000			T	BCL6	NHL								31	46					0	0	1	0	0
OR2T27	403239	broad.mit.edu	37	1	248813436	248813436	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248813436G>A	ENST00000344889.3	-	1	749	c.750C>T	c.(748-750)ctC>ctT	p.L250L		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	250					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)			CCCCATAGAAGAGGCTGACAA	0.517000													6	75					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44084814	44084814	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:44084814C>T	ENST00000359947.4	+	27	4927	c.4587C>T	c.(4585-4587)ttC>ttT	p.F1529F	PTPRF_ENST00000438120.1_Silent_p.F1520F|PTPRF_ENST00000372413.3_Silent_p.F1520F|PTPRF_ENST00000372414.3_Silent_p.F1529F|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.F888F	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1529	Tyrosine-protein phosphatase 1.				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)				TCCTGGCCTTCCTACGACGGG	0.632000													43	26					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70949918	70949918	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:70949918C>T	ENST00000334414.6	-	19	4769	c.4725G>A	c.(4723-4725)aaG>aaA	p.K1575K	PTPRB_ENST00000261266.5_Silent_p.K1357K|PTPRB_ENST00000550857.1_Silent_p.K1267K|PTPRB_ENST00000550358.1_Silent_p.K1487K|PTPRB_ENST00000538708.1_Silent_p.K1267K|PTPRB_ENST00000451516.2_Silent_p.K1267K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1357					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)			GGTTTTGTATCTTGTCAGGCT	0.453000													13	19					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46912014	46912014	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:46912014G>A	ENST00000378623.1	-	14	1971	c.1729C>T	c.(1729-1731)Ccc>Tcc	p.P577S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	577					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)		TCAATACGGGGGGTGTTGCCC	0.537000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	27					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70515839	70515839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:70515839C>T	ENST00000260128.4	+	12	1912	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	SULF1_ENST00000419716.3_Nonsense_Mutation_p.R399*|SULF1_ENST00000402687.4_Nonsense_Mutation_p.R399*|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Nonsense_Mutation_p.R399*	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	399					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)			TTTCAGGTTTCGAACAAACAA	0.413000													18	34					0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853724	35853724	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:35853724C>T	ENST00000377988.2	+	13	2594	c.1306C>T	c.(1306-1308)Cca>Tca	p.P436S	TMEM8B_ENST00000377991.4_Missense_Mutation_p.P436S	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	436					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CCACGGGGTCCCATCTGGAGC	0.627000													33	14					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55119985	55119985	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:55119985C>T	ENST00000370862.3	+	3	790	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	152					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)			CGCCTTGGATCGGTGGTATGC	0.453000													32	71					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	20991137	20991137	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:20991137G>A	ENST00000247986.2	-	15	3340	c.3030C>T	c.(3028-3030)atC>atT	p.I1010I	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.I1009I|KIF17_ENST00000375044.1_Silent_p.I910I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	1010					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.I1010I(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)		TGGTGAAAGGGATGTCGAGGG	0.587000													35	13					0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32235106	32235106	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:32235106A>C	ENST00000382142.3	-	14	1644	c.1474T>G	c.(1474-1476)Ttc>Gtc	p.F492V	MTMR12_ENST00000280285.5_Missense_Mutation_p.F492V|MTMR12_ENST00000264934.5_Intron	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	492	Interaction with MTM1.|Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTGAAGAAGAAGGTGCTAAAA	0.428000													27	34					0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75398220	75398220	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:75398220C>T	ENST00000329047.8	+	2	914	c.102C>T	c.(100-102)ctC>ctT	p.L34L	SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000427177.1_Silent_p.L52L|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000591198.1_Silent_p.L33L|SEPT9_ENST00000590294.1_Silent_p.L34L|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000423034.2_Silent_p.L45L|SEPT9_ENST00000449803.2_5'UTR	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	52					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CTCCCCTACTCCGAGCCACTG	0.587000													20	27					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75927723	75927723	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:75927723G>A	ENST00000274364.6	+	15	1949	c.1652G>A	c.(1651-1653)gGa>gAa	p.G551E	IQGAP2_ENST00000396234.3_Missense_Mutation_p.G104E|IQGAP2_ENST00000379730.3_Missense_Mutation_p.G110E|IQGAP2_ENST00000502745.1_Missense_Mutation_p.G104E	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	551					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)		TGTTTGGAAGGAAAAAAATCA	0.373000													19	30					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149499	34149499	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:34149499C>T	ENST00000346193.3	-	1	948	c.897G>A	c.(895-897)ggG>ggA	p.G299G		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	299										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						GACAGAATTTCCCACAAGGGT	0.597000													16	4					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288491	77288491	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:77288491C>T	ENST00000388914.3	-	11	1938	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	596										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						ATTTCTTTCTCCAGTTGAGCT	0.413000													45	60					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9007833	9007833	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9007833G>A	ENST00000397910.4	-	42	39594	c.39391C>T	c.(39391-39393)Cgg>Tgg	p.R13131W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13133					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						CCAGAGCTCCGATGGGTGAAA	0.532000													16	37					0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31501778	31501778	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:31501778G>A	ENST00000330498.3	+	14	1960	c.1941G>A	c.(1939-1941)ccG>ccA	p.P647P	C16orf58_ENST00000567994.1_3'UTR|SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000327237.2_3'UTR|C16orf58_ENST00000570164.1_3'UTR	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	647					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GCGAGGACCCGAGCTGGGCCC	0.627000													3	19					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121646614	121646614	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:121646614G>A	ENST00000489711.1	+	14	1522	c.1134G>A	c.(1132-1134)agG>agA	p.R378R	SLC15A2_ENST00000295605.2_Silent_p.R347R	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	378					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)	GATCACTTAGGAAAATGGCTG	0.368000													18	35					0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55523827	55523827	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55523827C>T	ENST00000305377.5	+	1	363	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	92					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						GGCAATCTCTCCTTCATTGAT	0.418000													77	125					0	0	1	0	0
FBXW2	26190	broad.mit.edu	37	9	123535038	123535038	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:123535038C>G	ENST00000373926.3	-	6	1087	c.900G>C	c.(898-900)gaG>gaC	p.E300D	FBXW2_ENST00000340778.5_Missense_Mutation_p.E235D|FBXW2_ENST00000493559.1_5'UTR	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	300					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						TCACCTTAATCTCATATTTGT	0.363000													9	8					0	0	1	0	0
ULBP2	80328	broad.mit.edu	37	6	150267602	150267602	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:150267602C>T	ENST00000367351.3	+	3	517	c.444C>T	c.(442-444)ttC>ttT	p.F148F		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	148	MHC class I alpha-2 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)		GGCAGATCTTCCTCCTCTTTG	0.507000													72	91					0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43585056	43585056	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:43585056C>T	ENST00000406487.1	-	2	505	c.407G>A	c.(406-408)gGa>gAa	p.G136E		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	136	Ig-like V-type.				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)				GGTGAAATATCCAGTTACTCC	0.502000													75	127					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117647613	117647613	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:117647613C>T	ENST00000321322.6	-	3	585	c.584G>A	c.(583-585)aGg>aAg	p.R195K	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	135	Ig-like C2-type 2.				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)		ACGCATTGACCTTTGATCCTC	0.532000													24	28					0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46244820	46244820	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:46244820G>A	ENST00000296140.3	-	2	1110	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	329					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAGAGGAAGGGGAGCCATTTA	0.582000													31	34					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230459184	230459184	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:230459184G>A	ENST00000321327.2	-	9	1651	c.1652C>T	c.(1651-1653)tCt>tTt	p.S551F	PGBD5_ENST00000525115.1_Missense_Mutation_p.S452F|PGBD5_ENST00000391860.1_Missense_Mutation_p.S406F			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	452						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)		GTGGGTCGGAGAGGCATCCTC	0.607000													33	77					0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167754435	167754435	+	Silent	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:167754435T>C	ENST00000239587.5	+	3	1135	c.1047T>C	c.(1045-1047)gtT>gtC	p.V349V		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	349	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)		ACCGCATGGTTATTCTCACCA	0.438000													147	155					0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776150	5776150	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5776150C>T	ENST00000317254.3	+	1	228	c.180C>T	c.(178-180)ccC>ccT	p.P60P	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	60					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)		TGCACAAACCCATGTACTACT	0.453000													54	51					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97137616	97137616	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:97137616C>T	ENST00000524981.3	+	21	2838	c.2838C>T	c.(2836-2838)ttC>ttT	p.F946F				Q6ZTY8	CL063_HUMAN		920										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTGAGAAATTCAAGGAATCTC	0.398000													34	29					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196952032	196952032	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:196952032C>T	ENST00000367414.5	+	2	204	c.148C>T	c.(148-150)Cca>Tca	p.P50S	CFHR5_ENST00000256785.4_Missense_Mutation_p.P26S	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	26	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						TTGTGATTTTCCAAAAATACA	0.308000													55	36					0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129246025	129246025	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:129246025C>T	ENST00000281437.4	+	1	191	c.95C>T	c.(94-96)tCc>tTc	p.S32F		NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	32										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)		GAGATCCTCTCCAAGGAGACC	0.597000											OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	71	90					0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27361066	27361066	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:27361066G>A	ENST00000335524.3	-	3	657	c.132C>T	c.(130-132)ctC>ctT	p.L44L		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	44	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGAGGGAGGGAGGCCCTGAT	0.612000													15	19					0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155206068	155206068	+	Nonsense_Mutation	SNP	G	G	A	rs121908309		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:155206068G>A	ENST00000428024.2	-	7	1433	c.931C>T	c.(931-933)Cga>Tga	p.R311*	GBA_ENST00000327247.5_Nonsense_Mutation_p.R398*|GBA_ENST00000536770.1_Nonsense_Mutation_p.R285*|GBA_ENST00000368373.3_Nonsense_Mutation_p.R398*|GBA_ENST00000427500.2_Nonsense_Mutation_p.R349*	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	398					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	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)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TGCATCCCTCGATCCCAGGAG	0.572000									Gaucher disease type I				19	51					0	0	1	0	0
IGJ	3512	broad.mit.edu	37	4	71532202	71532202	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:71532202C>T	ENST00000254801.4	-	1	175	c.6G>A	c.(4-6)aaG>aaA	p.K2K	IGJ_ENST00000543780.1_Silent_p.K2K|ENAM_ENST00000472903.1_Intron	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	2					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			GCAAATGGTTCTTCATCTTGA	0.383000													15	37					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595193	55595193	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:55595193C>T	ENST00000378397.1	+	1	499	c.499C>T	c.(499-501)Ctc>Ttc	p.L167F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L167V(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)				TCTTAGGATCCTCTTCTATAG	0.478000										HNSCC(27;0.073)			102	150					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142539803	142539803	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:142539803C>T	ENST00000295992.3	-	8	1340	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	PCOLCE2_ENST00000485766.1_Silent_p.G265G	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	345	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity	p.G345E(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CGCCAAATTTCCCTCTTTGTA	0.507000													27	37					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	78005753	78005753	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:78005753G>A	ENST00000302536.2	+	8	1237	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	362							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						GCAGGTGAAGGAGGCCATGCA	0.512000											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	136	191					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90055394	90055394	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:90055394G>A	ENST00000405460.2	+	58	12205	c.12109G>A	c.(12109-12111)Gaa>Aaa	p.E4037K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4037					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)		ATTTGGATTTGAAGAAAAGAC	0.378000													9	17					0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	112783	112783	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:112783A>G	ENST00000262316.6	-	6	927	c.785T>C	c.(784-786)tTc>tCc	p.F262S	RHBDF1_ENST00000454039.2_Missense_Mutation_p.F262S	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	262					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CCGGGCAAAGAAGGATGTGTC	0.587000													83	13					0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127253477	127253477	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:127253477C>T	ENST00000373588.4	-	6	1217	c.1021G>A	c.(1021-1023)Ggc>Agc	p.G341S		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	341	Important for dimerization.|Ligand-binding.				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						AGCAGCGAGCCCGCCTGGGTG	0.682000													4	10					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404357	197404357	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:197404357G>A	ENST00000367397.1	+	5	2365	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.E1010K|CRB1_ENST00000535699.1_Missense_Mutation_p.E1098K|CRB1_ENST00000544212.1_Missense_Mutation_p.E603K|CRB1_ENST00000367400.3_Missense_Mutation_p.E1122K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1122	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.Q1121_E1122>H*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAAACCTCAGGAAGAGCAATT	0.398000													105	63					0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82563957	82563957	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:82563957C>T	ENST00000339465.5	+	2	136	c.67C>T	c.(67-69)Cct>Tct	p.P23S	FAM154B_ENST00000565432.1_Missense_Mutation_p.P36S|FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.P8S	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	23										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GGATTATTGTCCTTATGAAAT	0.333000													16	28					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38760228	38760228	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:38760228G>A	ENST00000449082.2	-	20	3596	c.3597C>T	c.(3595-3597)ttC>ttT	p.F1199F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1199					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)	GCAGCATCTCGAACACAAAGA	0.498000													39	51					0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809570	5809570	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5809570G>A	ENST00000317078.1	-	1	476	c.477C>T	c.(475-477)atC>atT	p.I159I	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	159					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)		AAGTGGAAGGGATAACAAGCA	0.498000													27	41					0	0	1	0	0
LCN9	392399	broad.mit.edu	37	9	138557560	138557560	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:138557560G>A	ENST00000277526.3	+	5	437	c.437G>A	c.(436-438)gGa>gAa	p.G146E	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	146						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		GAAAAGTACGGACTTGGCTCA	0.567000													11	14					0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5323061	5323061	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5323061C>T	ENST00000380224.1	-	1	165	c.116G>A	c.(115-117)gGa>gAa	p.G39E	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	39					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)		AGTGCCATTTCCAAAAAGGAC	0.507000													36	64					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28250644	28250644	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:28250644C>T	ENST00000305242.5	-	10	1331	c.1238_splice	c.e10-1	p.R413_splice	ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Splice_Site_p.R105_splice|ARMC4_ENST00000239715.3_Splice_Site_p.R270_splice	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	413							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						CAGCACTCTTCCTAAGAACAA	0.438000													23	44					0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71570877	71570877	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:71570877G>A	ENST00000338482.5	+	3	640	c.297G>A	c.(295-297)cgG>cgA	p.R99R	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Silent_p.R99R|CHST4_ENST00000539698.3_Silent_p.R99R|RP11-510M2.9_ENST00000572693.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	99					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ATCTGATACGGGCCGTCTTCT	0.587000													46	48					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101753175	101753175	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:101753175C>T	ENST00000251127.6	-	27	3203	c.3122G>A	c.(3121-3123)gGa>gAa	p.G1041E		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1041						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)					GGCCAGTTTTCCAGCAAAAAG	0.368000													16	33					0	0	1	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31727214	31727214	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:31727214G>T	ENST00000493662.2	+	17	1527	c.1471G>T	c.(1471-1473)Gag>Tag	p.E491*	MSH5_ENST00000395853.1_Nonsense_Mutation_p.E148*|MSH5_ENST00000375742.3_Nonsense_Mutation_p.E491*|MSH5_ENST00000431848.2_Nonsense_Mutation_p.E173*|MSH5_ENST00000375703.3_Nonsense_Mutation_p.E474*|MSH5_ENST00000534153.4_Nonsense_Mutation_p.E491*|MSH5_ENST00000375740.3_Nonsense_Mutation_p.E491*|MSH5_ENST00000375750.3_Nonsense_Mutation_p.E474*|MSH5_ENST00000375755.3_Nonsense_Mutation_p.E474*																							TCTCTCAGAGGAGAAGCTGCA	0.547000													12	60					6.31663e-08	6.35575e-08	1	1	0
COL14A1	7373	broad.mit.edu	37	8	121381620	121381620	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:121381620G>A	ENST00000297848.3	+	47	5477	c.5207G>A	c.(5206-5208)gGa>gAa	p.G1736E	COL14A1_ENST00000247781.3_Missense_Mutation_p.G1641E|COL14A1_ENST00000309791.4_Missense_Mutation_p.G1736E	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1736	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)			GGCTCTCCTGGACCAAGAGGC	0.592000													34	33					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039611	2039611	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:2039611C>T	ENST00000382203.1	+	4	710	c.501C>T	c.(499-501)ccC>ccT	p.P167P	SMARCA2_ENST00000382194.1_Silent_p.P167P|SMARCA2_ENST00000357248.2_Silent_p.P167P|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_Silent_p.P167P			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	167					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)		TGAGCCAGCCCAACAGAGGTC	0.602000													6	64					0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62327791	62327791	+	Silent	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:62327791T>C	ENST00000378019.3	-	8	1233	c.1143A>G	c.(1141-1143)gaA>gaG	p.E381E	EEF1G_ENST00000329251.4_Silent_p.E331E|MIR3654_ENST00000496634.2_3'UTR			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	331	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCTGAGTGAGTTCTTCAGGGA	0.502000													11	20					0	0	1	0	0
PRPF40A	55660	broad.mit.edu	37	2	153514483	153514483	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:153514483G>A	ENST00000410080.1	-	25	3161	c.2620C>T	c.(2620-2622)Cgg>Tgg	p.R874W		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	901					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TCACTTTCCCGATCTTTTTCT	0.348000													9	6					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100084776	100084776	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:100084776G>A	ENST00000423930.1	+	3	560	c.401G>A	c.(400-402)gGg>gAg	p.G134E	NYAP1_ENST00000454988.1_Missense_Mutation_p.G77E|NYAP1_ENST00000300179.2_Missense_Mutation_p.G134E			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	134																	CCTGGGTCTGGGGCAGAGACG	0.672000													7	13					0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87749214	87749214	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:87749214G>A	ENST00000273905.6	-	4	840	c.693C>T	c.(691-693)ttC>ttT	p.F231F	SLC10A6_ENST00000505535.1_Intron	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	231						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		AAGGAAAGATGAAACTGATGG	0.473000													32	29					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15247221	15247221	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:15247221G>A	ENST00000379554.3	+	9	1204	c.1158G>A	c.(1156-1158)ggG>ggA	p.G386G	INSC_ENST00000379556.3_Silent_p.G339G|INSC_ENST00000525218.1_Silent_p.G297G|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000530161.1_Silent_p.G339G|INSC_ENST00000528567.1_Silent_p.G339G|INSC_ENST00000424273.1_Silent_p.G297G	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	386					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CCTCATCAGGGGAAGTCTTCC	0.493000													8	23					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998691	27998691	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:27998691G>A	ENST00000441525.1	-	1	875	c.761C>T	c.(760-762)tCc>tTc	p.S254F		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	254										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						GGCCAGAGTGGAATCACCACA	0.483000													42	7					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79408979	79408979	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:79408979C>T	ENST00000307745.7	+	9	604	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W																								GGATCGAGACCGGGGTGAGGC	0.721000													9	40					0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103814345	103814345	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:103814345G>A	ENST00000302251.5	-	5	1040	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	PDGFD_ENST00000393158.2_Missense_Mutation_p.P203S	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	203					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		ATCAGAGTGGGATCCGTTACT	0.418000													9	22					0	0	1	0	0
SNX30	401548	broad.mit.edu	37	9	115567111	115567111	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:115567111C>T	ENST00000374232.3	+	2	376	c.212C>T	c.(211-213)tCa>tTa	p.S71L		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	71					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CCAGCTTCTTCATCTTCCCTT	0.398000													34	120					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048423	6048423	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:6048423G>A	ENST00000316650.5	-	1	548	c.512C>T	c.(511-513)tCc>tTc	p.S171F		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		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)		ATGGAGCAGGGAAGTGAGGAT	0.468000													49	69					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330498	125330498	+	Silent	SNP	G	G	A	rs148504229		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:125330498G>A	ENST00000304865.2	-	1	340	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	87					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						TTTTCTGACAGGAAGTTCATC	0.463000													44	58					0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282568	59282568	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:59282568C>T	ENST00000329328.3	+	1	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	61					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						CCATGTACTTCCTGCTCCGCA	0.433000													82	121					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60773232	60773232	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:60773232G>A	ENST00000335712.6	-	2	486	c.259C>T	c.(259-261)Cct>Tct	p.P87S	BCL11A_ENST00000359629.5_Missense_Mutation_p.P87S|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.P87S|BCL11A_ENST00000358510.4_Missense_Mutation_p.P87S|BCL11A_ENST00000356842.4_Missense_Mutation_p.P87S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	87	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				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)			ATTGGTGAAGGGGAAGGTGGC	0.463000			T	IGH@	B-CLL								19	60					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60780969	60780969	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:60780969G>A	ENST00000313421.7	+	7	1411	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	CD6_ENST00000452451.2_Missense_Mutation_p.G409R|CD6_ENST00000352009.5_Missense_Mutation_p.G409R|CD6_ENST00000346437.4_Missense_Mutation_p.G409R|CD6_ENST00000344028.5_Missense_Mutation_p.G409R|CD6_ENST00000545105.1_3'UTR	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	409					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CATCGTTCTGGGAATTCTCCT	0.458000													73	125					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7720897	7720897	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:7720897C>T	ENST00000572933.1	+	66	11499	c.10039C>T	c.(10039-10041)Cct>Tct	p.P3347S	DNAH2_ENST00000389173.2_Missense_Mutation_p.P3347S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3347					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)				GCTTCAGGTTCCTTGCTCCCC	0.537000													85	91					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302184	128302184	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:128302184C>T	ENST00000262462.4	+	1	1364	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SLC27A6_ENST00000395266.1_Silent_p.F118F|SLC27A6_ENST00000506176.1_Silent_p.F118F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	118					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)		AGCCGGACTTCGTTCACGTGT	0.567000													14	28					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709187	176709187	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:176709187C>T	ENST00000367662.3	+	14	5170	c.4006C>T	c.(4006-4008)Cac>Tac	p.H1336Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1336					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						TGTCCTTTTCCACCATACCAC	0.488000													101	81					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228153875	228153875	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:228153875G>A	ENST00000396578.3	+	35	3053	c.2891G>A	c.(2890-2892)gGa>gAa	p.G964E	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	964	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)		GGATTCGCAGGAAATCCAGGT	0.527000													12	13					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671373	31671373	+	Missense_Mutation	SNP	C	C	T	rs140887073		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:31671373C>T	ENST00000375483.3	+	3	370	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	124						cytoplasm|extracellular region	lipid binding										CAGTGGCTATCGCAGTGCCGA	0.592000													32	46					0	0	1	0	0
CCDC3	83643	broad.mit.edu	37	10	12940626	12940626	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:12940626C>T	ENST00000378839.1	-	7	1180	c.228G>A	c.(226-228)aaG>aaA	p.K76K	CCDC3_ENST00000378825.3_Silent_p.K201K			Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	201						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			GCTGCAGTTTCTTGACGTGGT	0.597000													23	37					0	0	1	0	0
SPDYE4	388333	broad.mit.edu	37	17	8656492	8656492	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:8656492G>A	ENST00000328794.6	-	6	854	c.678C>T	c.(676-678)caC>caT	p.H226H		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	226										breast(1)|endometrium(2)|kidney(1)	4						CCCACACCCAGTGCTCTGGGT	0.602000													12	27					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133175449	133175449	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:133175449G>A	ENST00000329321.3	+	1	1303	c.834G>A	c.(832-834)agG>agA	p.R278R		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	278						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						GGACCGCCAGGAGGCAGACCA	0.642000													29	40					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29533315	29533315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:29533315C>T	ENST00000358273.4	+	12	1701	c.1318C>T	c.(1318-1320)Cga>Tga	p.R440*	NF1_ENST00000431387.4_Nonsense_Mutation_p.R440*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R440*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	440					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.?(6)|p.R440*(3)|p.R440>?(2)	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)		GGTTGAACTTCGAAATATGTT	0.398000			"""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)			51	80					0	0	1	0	0
ARRDC2	27106	broad.mit.edu	37	19	18119528	18119528	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:18119528G>A	ENST00000222250.4	+	2	426	c.283G>A	c.(283-285)Gag>Aag	p.E95K	ARRDC2_ENST00000595712.1_3'UTR|ARRDC2_ENST00000379656.2_Missense_Mutation_p.E90K	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	95										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						AGATACCGGGGAGACCACGAC	0.657000													27	39					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40114614	40114614	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:40114614C>T	ENST00000324616.5	+	13	1674	c.1520C>T	c.(1519-1521)tCa>tTa	p.S507L		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	507										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						GATCAAATATCACAGCAAATT	0.289000													33	38					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10942959	10942959	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:10942959G>A	ENST00000298232.7	-	11	941	c.574C>T	c.(574-576)Cat>Tat	p.H192Y	TPTE_ENST00000361285.4_Missense_Mutation_p.H210Y|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.H172Y	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	210					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)		CTTTTTTGATGAAACAGATGA	0.323000													14	167					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62751964	62751964	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:62751964G>A	ENST00000331425.6	-	0	1471					NR_003952.1																						CCACTTAAAAGCTTGGTCACA	0.398000													29	54					0	0	1	0	0
ZNF664	144348	broad.mit.edu	37	12	124496709	124496709	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:124496709C>T	ENST00000539644.1	+	6	1848	c.18C>T	c.(16-18)ccC>ccT	p.P6P	ZNF664_ENST00000337815.4_Silent_p.P6P|ZNF664_ENST00000392404.3_Silent_p.P6P|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000538932.2_Silent_p.P6P			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		ACAAGTGCCCCATGTGTAGGG	0.368000													14	54					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628617	71628617	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:71628617G>A	ENST00000377276.2	-	1	422	c.392C>T	c.(391-393)tCc>tTc	p.S131F		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	131	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CTGTAGGCGGGAGAACATCTC	0.587000													26	51					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225343	21225343	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:21225343C>T	ENST00000233242.1	-	29	13078	c.12951G>A	c.(12949-12951)ctG>ctA	p.L4317L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4317					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)	TCATCTCTTTCAGCTGTTTAA	0.303000													36	40					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58232733	58232733	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:58232733G>A	ENST00000317398.6	-	4	816	c.721C>T	c.(721-723)Ctc>Ttc	p.L241F	ZNF671_ENST00000335820.3_Missense_Mutation_p.L143F|AC003006.7_ENST00000599221.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		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;0.0257)		CCACATGTGAGGGTCTTCTCT	0.532000													43	48					0	0	1	0	0
MMP21	118856	broad.mit.edu	37	10	127459124	127459124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:127459124C>T	ENST00000368808.3	-	5	1015	c.1016G>A	c.(1015-1017)tGg>tAg	p.W339*		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	339	Hemopexin-like 1.				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTTGCGAATCCAGTCAAACGC	0.373000													25	39					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100507	168100507	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:168100507G>A	ENST00000409195.1	+	9	2694	c.2605G>A	c.(2605-2607)Ggt>Agt	p.G869S	XIRP2_ENST00000409273.1_Missense_Mutation_p.G647S|XIRP2_ENST00000295237.9_Missense_Mutation_p.G869S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	694					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						GGAGATAATAGGTGGTGATGT	0.378000													57	111					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143028362	143028362	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:143028362G>A	ENST00000343257.2	+	9	1104	c.1017G>A	c.(1015-1017)atG>atA	p.M339I		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	339					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)					ATTTCCGAATGGATTTCCCCT	0.517000													25	46					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304686	3304686	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:3304686C>T	ENST00000219596.1	-	2	421	c.382G>A	c.(382-384)Gag>Aag	p.E128K	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	128					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCGTTCCCCTCGTTCCCCTCG	0.677000													19	35					0	0	1	0	0
FXYD4	53828	broad.mit.edu	37	10	43871510	43871510	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:43871510C>T	ENST00000476166.1	+	8	577	c.243C>T	c.(241-243)atC>atT	p.I81I	FXYD4_ENST00000480834.1_3'UTR	NM_173160.2	NP_775183.1	P59646	FXYD4_HUMAN	FXYD domain containing ion transport regulator 4	81						integral to membrane				NS(1)|large_intestine(1)|lung(3)	5						TCCCACTCATCACTCCAGGTG	0.567000													24	41					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157497478	157497478	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:157497478C>T	ENST00000361835.3	-	9	2046	c.1889G>A	c.(1888-1890)gGa>gAa	p.G630E	FCRL5_ENST00000368190.3_Missense_Mutation_p.G630E|FCRL5_ENST00000368191.3_Missense_Mutation_p.G545E|FCRL5_ENST00000356953.4_Missense_Mutation_p.G630E	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	630	Ig-like C2-type 6.					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)				TGAGTAGTTTCCAGAATGTTC	0.488000													17	153					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542797	28542797	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:28542797C>T	ENST00000452236.2	-	3	2302	c.1685G>A	c.(1684-1686)aGa>aAa	p.R562K		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	562					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						ATACTGGGCTCTTAAAGTATT	0.413000													53	88					0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068656	5068656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5068656C>T	ENST00000380370.1	+	1	901	c.901C>T	c.(901-903)Cga>Tga	p.R301*		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	301					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)		CAAACAGATTCGAGAACGAGT	0.383000													34	71					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56589763	56589763	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:56589763G>T	ENST00000323456.5	-	4	322	c.198C>A	c.(196-198)gaC>gaA	p.D66E	MTMR4_ENST00000579925.1_Missense_Mutation_p.D66E	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	66						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)					TGATGACAGAGTCCTTGAATT	0.502000													27	53					1.75199e-13	1.77447e-13	1	1	0
DUSP27	92235	broad.mit.edu	37	1	167064182	167064182	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:167064182C>G	ENST00000361200.2	+	2	262	c.96C>G	c.(94-96)agC>agG	p.S32R	DUSP27_ENST00000443333.1_Missense_Mutation_p.S32R|DUSP27_ENST00000271385.5_Missense_Mutation_p.S32R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	32					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						ACCTCCGAAGCCCCTCCCCTA	0.627000													6	11					0	0	1	0	0
MEF2D	4209	broad.mit.edu	37	1	156445004	156445004	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:156445004G>A	ENST00000348159.4	-	9	1382	c.902C>T	c.(901-903)tCc>tTc	p.S301F	MEF2D_ENST00000464356.1_Intron|MEF2D_ENST00000353795.3_Missense_Mutation_p.S255F|MEF2D_ENST00000360595.3_Missense_Mutation_p.S294F|MEF2D_ENST00000368240.2_Missense_Mutation_p.S294F|MEF2D_ENST00000340875.5_Missense_Mutation_p.S300F	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	301					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGTAGACTGGGAGACCCCAAG	0.582000													18	66					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48125114	48125114	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:48125114C>A	ENST00000311303.3	-	23	3547	c.3202G>T	c.(3202-3204)Gga>Tga	p.G1068*	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1068	ABC transmembrane type-1 2.					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)				TGGAGCAGTCCGCTCAGCTGT	0.547000													54	78					8.44121e-28	8.59684e-28	1	1	0
PHKA1	5255	broad.mit.edu	37	X	71830897	71830897	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:71830897T>A	ENST00000373545.3	-	21	2768	c.2330A>T	c.(2329-2331)aAa>aTa	p.K777I	PHKA1_ENST00000339490.3_Missense_Mutation_p.K836I|PHKA1_ENST00000373539.3_Missense_Mutation_p.K836I|PHKA1_ENST00000373542.4_Missense_Mutation_p.K836I|PHKA1_ENST00000541944.1_Missense_Mutation_p.K777I			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	836					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TGCTTCCACTTTCTTCCTTAA	0.368000													12	2					0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186335000	186335000	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:186335000T>G	ENST00000411641.2	+	4	653	c.434T>G	c.(433-435)gTg>gGg	p.V145G	AHSG_ENST00000273784.5_Missense_Mutation_p.V146G			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	145	Cystatin fetuin-A-type 2.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GTGCGCAAGGTGTGCCAAGAC	0.652000											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	49					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138264004	138264004	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:138264004C>T	ENST00000343526.4	+	15	2527	c.2312C>T	c.(2311-2313)tCt>tTt	p.S771F	TRIM24_ENST00000415680.2_Missense_Mutation_p.S737F			O15164	TIF1A_HUMAN	tripartite motif containing 24	771	Nuclear receptor binding site (NRBS).				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						AGTCAGAGCTCTACTTCTGAG	0.398000													56	89					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1616571	1616571	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:1616571G>A	ENST00000421627.2	+	6	1781	c.1647G>A	c.(1645-1647)gtG>gtA	p.V549V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	628					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)		TGATCTCGGTGACGGCGCAGA	0.597000													6	7					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634318	70634318	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:70634318G>A	ENST00000381269.2	-	2	1575	c.822C>T	c.(820-822)atC>atT	p.I274I	SLC8A3_ENST00000528359.1_Silent_p.I274I|SLC8A3_ENST00000356921.2_Silent_p.I274I|SLC8A3_ENST00000534137.1_Silent_p.I274I|SLC8A3_ENST00000357887.3_Silent_p.I274I	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	274					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)		CTGTCTCTATGATAATTCCTC	0.483000													28	8					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9806848	9806848	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:9806848C>T	ENST00000256190.8	-	37	5192	c.5055G>A	c.(5053-5055)tcG>tcA	p.S1685S	SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000525636.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1685					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTGGGGATCTCGACAGGTGTC	0.443000													26	51					0	0	1	0	0
IL31	386653	broad.mit.edu	37	12	122657009	122657009	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:122657009C>T	ENST00000377035.1	-	3	471	c.445G>A	c.(445-447)Gac>Aac	p.D149N		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	149						extracellular space	cytokine activity			central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		AGTGCGAGGTCCATGCACTCT	0.443000													12	95					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61607835	61607835	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:61607835G>A	ENST00000583023.1	+	4	618	c.607G>A	c.(607-609)Gag>Aag	p.E203K	KCNH6_ENST00000581784.1_Missense_Mutation_p.E203K|KCNH6_ENST00000456941.2_Missense_Mutation_p.E203K|KCNH6_ENST00000580652.1_Missense_Mutation_p.E203K|KCNH6_ENST00000314672.5_Missense_Mutation_p.E203K	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	203					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)	CTCCACCACGGAGATTGAGAT	0.592000													25	52					0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36831234	36831234	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:36831234G>A	ENST00000270001.7	-	5	1609	c.1494C>T	c.(1492-1494)caC>caT	p.H498H		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					GAATTCTCTGGTGTTGAGTAA	0.393000													27	44					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70709896	70709896	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:70709896G>A	ENST00000226444.3	-	7	867	c.755C>T	c.(754-756)tCg>tTg	p.S252L		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	252					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CATGAAGGGCGACAATTTCTG	0.398000													70	100					0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49701568	49701568	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:49701568C>T	ENST00000303221.5	-	5	806	c.591G>A	c.(589-591)ggG>ggA	p.G197G	EMB_ENST00000506190.1_5'UTR|EMB_ENST00000514111.1_Silent_p.G147G|EMB_ENST00000508934.1_Silent_p.G143G	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	197	Ig-like V-type 2.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CCTTTACACTCCCATTACTAC	0.323000													36	47					0	0	1	0	0
CACNG6	59285	broad.mit.edu	37	19	54496152	54496152	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:54496152C>T	ENST00000252729.2	+	1	611	c.21C>T	c.(19-21)ttC>ttT	p.F7F	CACNG6_ENST00000352529.1_Silent_p.F7F|CACNG6_ENST00000346968.2_Silent_p.F7F	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	7						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	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;0.168)		CCAACTTCTTCCTGCAAGAGG	0.741000													4	18					0	0	1	0	0
UBE2D3	7323	broad.mit.edu	37	4	103723746	103723746	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:103723746G>A	ENST00000453744.2	-	5	683	c.170C>T	c.(169-171)cCt>cTt	p.P57L	UBE2D3_ENST00000394803.5_Missense_Mutation_p.P57L|UBE2D3_ENST00000394804.2_Missense_Mutation_p.P57L|UBE2D3_ENST00000357194.6_Missense_Mutation_p.P59L|UBE2D3_ENST00000505207.1_Missense_Mutation_p.P28L|UBE2D3_ENST00000502404.1_Missense_Mutation_p.P28L|UBE2D3_ENST00000350435.7_Missense_Mutation_p.P51L|UBE2D3_ENST00000343106.5_Missense_Mutation_p.P57L|UBE2D3_ENST00000349311.8_Missense_Mutation_p.P57L|UBE2D3_ENST00000338145.3_Missense_Mutation_p.P57L|UBE2D3_ENST00000321805.7_Missense_Mutation_p.P57L|UBE2D3_ENST00000507845.1_Missense_Mutation_p.P28L|UBE2D3_ENST00000504211.1_Missense_Mutation_p.P28L|UBE2D3_ENST00000394801.4_Missense_Mutation_p.P57L	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	57					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		GTAGTCTGTAGGAAAATGAAT	0.318000													43	38					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716857	13716857	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:13716857G>C	ENST00000279593.3	-	13	3524	c.3315C>G	c.(3313-3315)atC>atG	p.I1105M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1105					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)	AGGCCAGCTCGATCTCGTCAA	0.612000													20	39					0	0	1	0	0
CXorf67	340602	broad.mit.edu	37	X	51150608	51150608	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:51150608C>T	ENST00000342995.2	+	1	842	c.740C>T	c.(739-741)cCa>cTa	p.P247L						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CCTGCTTTTCCACACCGCGCC	0.672000													8	0					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73167935	73167935	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:73167935C>T	ENST00000377110.2	-	23	3606	c.3363G>A	c.(3361-3363)tcG>tcA	p.S1121S	TRPM3_ENST00000358082.3_Silent_p.S983S|TRPM3_ENST00000396280.5_Silent_p.S970S|TRPM3_ENST00000377111.2_Silent_p.S1121S|TRPM3_ENST00000396285.1_Silent_p.S980S|TRPM3_ENST00000396292.4_Silent_p.S993S|TRPM3_ENST00000360823.2_Silent_p.S983S|TRPM3_ENST00000357533.2_Silent_p.S1125S|TRPM3_ENST00000423814.3_Silent_p.S1148S|TRPM3_ENST00000377106.1_Silent_p.S993S|TRPM3_ENST00000377105.1_Silent_p.S980S|TRPM3_ENST00000408909.2_Silent_p.S980S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1146						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						GGTTGGATATCGATTTTACTT	0.433000													65	64					0	0	1	0	0
TTC9	23508	broad.mit.edu	37	14	71134378	71134378	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:71134378C>T	ENST00000256367.2	+	2	847	c.504C>T	c.(502-504)taC>taT	p.Y168Y		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	168							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		AGGCCCTTTACCGGTCTGGTG	0.498000													63	19					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238289811	238289811	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:238289811C>T	ENST00000295550.4	-	5	2096	c.1644G>A	c.(1642-1644)ggG>ggA	p.G548G	COL6A3_ENST00000347401.3_Silent_p.G347G|COL6A3_ENST00000346358.4_Silent_p.G548G|COL6A3_ENST00000472056.1_Silent_p.G141G|COL6A3_ENST00000392004.3_Silent_p.G342G|COL6A3_ENST00000409809.1_Silent_p.G342G|COL6A3_ENST00000392003.2_Silent_p.G141G|COL6A3_ENST00000353578.4_Silent_p.G342G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	548	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)		GCTTAGGAATCCCCTCGGCAG	0.557000													53	73					0	0	1	0	0
GZMA	3001	broad.mit.edu	37	5	54403740	54403740	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:54403740G>A	ENST00000274306.6	+	3	369	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	112	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)				AGCCACACGCGAAGGTGACCT	0.438000													46	61					0	0	1	0	0
CDKN1A	1026	broad.mit.edu	37	6	36652113	36652113	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:36652113C>T	ENST00000405375.1	+	2	470	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	CDKN1A_ENST00000448526.2_Missense_Mutation_p.P113S|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Missense_Mutation_p.P79S|CDKN1A_ENST00000244741.5_Missense_Mutation_p.P79S	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	79					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GCTCTACCTTCCCACGGGGCC	0.662000													21	42					0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14869163	14869163	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrY:14869163C>T	ENST00000338981.3	+	13	2409	c.1464C>T	c.(1462-1464)ctC>ctT	p.L488L	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	488					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GTGAAAAGCTCCTTGAGTTGA	0.368000													46	4					0	0	1	0	0
PPIC	5480	broad.mit.edu	37	5	122364492	122364492	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:122364492G>A	ENST00000306442.4	-	3	418	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	101	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	CTCCAGTGGTGATGTCACCTC	0.393000													19	29					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74636221	74636221	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:74636221G>A	ENST00000358632.4	-	4	959	c.264C>T	c.(262-264)ccC>ccT	p.P88P	CYP11A1_ENST00000268053.6_Silent_p.P246P|CYP11A1_ENST00000419019.2_Silent_p.P88P|CYP11A1_ENST00000541301.1_3'UTR	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	246					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)	GGTTGAGCATGGGGACGCTGG	0.557000													77	84					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34100785	34100785	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:34100785G>A	ENST00000374181.3	-	1	658	c.489C>T	c.(487-489)atC>atT	p.I163I	GRM4_ENST00000538487.1_Silent_p.I163I|GRM4_ENST00000374177.3_Intron	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	163					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)	TGGCCACCATGATGGAGACCG	0.622000													13	37					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153133780	153133780	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:153133780G>A	ENST00000370060.1	-	14	1869	c.1680C>T	c.(1678-1680)ctC>ctT	p.L560L	L1CAM_ENST00000538883.1_Silent_p.L562L|L1CAM_ENST00000370057.3_Silent_p.L560L|L1CAM_ENST00000361981.3_Silent_p.L555L|L1CAM_ENST00000543994.1_Silent_p.L562L|L1CAM_ENST00000361699.4_Silent_p.L560L|L1CAM_ENST00000370055.1_Silent_p.L555L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	560	Ig-like C2-type 6.				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)					CAAGCTCCTGGAGGTCTCGAC	0.592000													76	8					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47681972	47681972	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:47681972G>A	ENST00000283303.2	+	6	1249	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	GPR115_ENST00000327753.3_Missense_Mutation_p.E331K|GPR115_ENST00000371220.1_Missense_Mutation_p.E388K	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	331					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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						AAGGTTGCAAGAAATCATACT	0.478000													83	62					0	0	1	0	0
IQCG	84223	broad.mit.edu	37	3	197665573	197665573	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:197665573G>A	ENST00000265239.6	-	5	785	c.361C>T	c.(361-363)Ccg>Tcg	p.P121S	IQCG_ENST00000455191.1_Missense_Mutation_p.P121S|IQCG_ENST00000453254.1_Missense_Mutation_p.P121S|IQCG_ENST00000480302.1_5'UTR	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	121										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GTTATTAACGGACTGGGTATT	0.388000													143	170					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121489550	121489550	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:121489550C>T	ENST00000260197.7	+	42	5801	c.5672C>T	c.(5671-5673)tCa>tTa	p.S1891L	SORL1_ENST00000525532.1_Missense_Mutation_p.S835L|SORL1_ENST00000534286.1_Missense_Mutation_p.S801L|SORL1_ENST00000532694.1_Missense_Mutation_p.S737L|SORL1_ENST00000527934.1_Missense_Mutation_p.S506L	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1891	Fibronectin type-III 4.				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)		TTGACTACTTCACTCCACAAC	0.423000													101	145					0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101961	69101961	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:69101961C>T	ENST00000332644.5	-	3	309	c.148G>A	c.(148-150)Gat>Aat	p.D50N		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	50	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						ATATGAAAATCACCTTGATAA	0.328000													10	21					0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	20003133	20003133	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:20003133G>A	ENST00000589717.1	+	4	1169	c.1077G>A	c.(1075-1077)aaG>aaA	p.K359K	ZNF253_ENST00000355650.4_Silent_p.K283K	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	359				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTACACATAAGATACTTCATA	0.383000													21	30					0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21488736	21488736	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:21488736G>T	ENST00000556147.1	-	8	1414	c.474C>A	c.(472-474)aaC>aaA	p.N158K	NDRG2_ENST00000397853.3_Missense_Mutation_p.N158K|NDRG2_ENST00000555158.1_Missense_Mutation_p.N144K|NDRG2_ENST00000397855.3_Intron|NDRG2_ENST00000403829.3_Missense_Mutation_p.N154K|NDRG2_ENST00000397856.3_Missense_Mutation_p.N144K|NDRG2_ENST00000397851.2_Missense_Mutation_p.N158K|NDRG2_ENST00000397858.1_Missense_Mutation_p.N158K|NDRG2_ENST00000553503.1_Missense_Mutation_p.N144K|NDRG2_ENST00000397844.2_Missense_Mutation_p.N144K|NDRG2_ENST00000554143.1_Missense_Mutation_p.N144K|NDRG2_ENST00000554104.1_Missense_Mutation_p.N71K|NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000298684.5_Intron|NDRG2_ENST00000360463.3_Missense_Mutation_p.N144K|NDRG2_ENST00000298687.5_Missense_Mutation_p.N158K|NDRG2_ENST00000350792.3_Missense_Mutation_p.N144K|NDRG2_ENST00000397847.2_Missense_Mutation_p.N158K			Q9UN36	NDRG2_HUMAN	NDRG family member 2	158					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGTCCGGGTGGTTAAGCTGAG	0.567000													6	15					3.59834e-05	3.6101e-05	1	1	0
OR4Q3	441669	broad.mit.edu	37	14	20216025	20216025	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20216025C>T	ENST00000331723.1	+	1	439	c.439C>T	c.(439-441)Ctt>Ttt	p.L147F		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	147					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)		TTGGTTGGTTCTTGCCTGCTG	0.493000													23	68					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121973124	121973124	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:121973124G>A	ENST00000498619.1	+	2	526	c.88G>A	c.(88-90)Ggg>Agg	p.G30R	CASR_ENST00000296154.5_Missense_Mutation_p.G30R|CASR_ENST00000490131.1_Missense_Mutation_p.G30R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	30					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)	CCAAAAGAAGGGGGACATTAT	0.517000													43	73					0	0	1	0	0
MIR1269A	100302177	broad.mit.edu	37	4	67142633	67142633	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:67142633C>T	ENST00000408636.1	+	0	92					NR_031673.1																						ctactggcttccctggtctcc	0.512000													31	25					0	0	1	0	0
BCAT2	587	broad.mit.edu	37	19	49300448	49300448	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:49300448C>T	ENST00000402551.1	-	8	1338	c.718_splice	c.e8+1	p.V240_splice	BCAT2_ENST00000316273.6_Splice_Site_p.V280_splice|BCAT2_ENST00000597011.1_Splice_Site_p.V240_splice|BCAT2_ENST00000545387.2_Splice_Site_p.V188_splice|BCAT2_ENST00000599246.1_Splice_Site_p.V188_splice|BCAT2_ENST00000598162.1_Splice_Site_p.V280_splice			O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	280						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	GTGGGCTTACCCCCATCTTCG	0.617000													6	12					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144863421	144863421	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:144863421G>A	ENST00000369359.4	-	40	6428	c.6390C>T	c.(6388-6390)ctC>ctT	p.L2130L	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000313382.9_Silent_p.L1888L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.L2079L|PDE4DIP_ENST00000369354.3_Silent_p.L1994L|PDE4DIP_ENST00000369356.4_Silent_p.L1994L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1994					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)		GTTGCTGCAGGAGAACCAGCT	0.532000			T	PDGFRB	MPD								36	219					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11445947	11445947	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:11445947G>A	ENST00000423059.3	-	22	4468	c.4217C>T	c.(4216-4218)tCc>tTc	p.S1406F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1406	TSP type-1 14.					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)		CTGGCTGCAGGATTCCTCCAG	0.423000										HNSCC(18;0.044)			41	50					0	0	1	0	0
PTPN2	5771	broad.mit.edu	37	18	12859247	12859247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:12859247G>A	ENST00000309660.5	-	2	169	c.76C>T	c.(76-78)Cga>Tga	p.R26*	PTPN2_ENST00000353319.4_Nonsense_Mutation_p.R26*|PTPN2_ENST00000591115.1_Nonsense_Mutation_p.R26*|PTPN2_ENST00000589086.1_5'UTR|PTPN2_ENST00000327283.3_Nonsense_Mutation_p.R26*	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	26	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	p.R26*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				GACTCATTTCGAATTTCCtta	0.358000													23	23					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601801	138601801	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:138601801G>A	ENST00000440172.1	-	2	2619	c.2571C>T	c.(2569-2571)ttC>ttT	p.F857F	KIAA1549_ENST00000422774.1_Silent_p.F857F|KIAA1549_ENST00000242365.4_Silent_p.F807F	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	857						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGGGCAGAGGGAAGGGGGTTG	0.582000			O	BRAF	pilocytic astrocytoma								10	23					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185074732	185074732	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:185074732C>T	ENST00000296741.2	-	2	537	c.396G>A	c.(394-396)agG>agA	p.R132R		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	132					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TGTAGACCTTCCTTTTGGCCT	0.473000													21	29					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	599095	599095	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:599095C>T	ENST00000219611.2	+	5	1915	c.1552C>T	c.(1552-1554)Ccc>Tcc	p.P518S	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		GTGGCTGCGACCCCAGGAGAT	0.647000													78	23					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848520	73848520	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:73848520G>A	ENST00000523207.1	+	3	1518	c.930G>A	c.(928-930)agG>agA	p.R310R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	310					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)			GCATCCTCAGGATCCTGAAAC	0.512000													37	54					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62757815	62757815	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:62757815G>A	ENST00000281156.4	-	3	582	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	102	KH.				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)		CCTTTGCCCAGGATAGACATT	0.383000													59	73					0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12082472	12082472	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:12082472C>T	ENST00000235332.4	+	3	604	c.435C>T	c.(433-435)atC>atT	p.I145I	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Silent_p.I145I	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	145										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CGAGGTCCATCCTGGCTCAAC	0.617000													9	4					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157522451	157522451	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:157522451C>T	ENST00000346085.5	+	18	4724	c.4723C>T	c.(4723-4725)Ctg>Ttg	p.L1575L	ARID1B_ENST00000350026.5_Silent_p.L1562L|ARID1B_ENST00000367148.1_Silent_p.L1615L|ARID1B_ENST00000275248.4_Silent_p.L1557L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1562	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTCTCCTTTTCTGCCGTCTAT	0.607000													65	88					0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178311167	178311167	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:178311167C>T	ENST00000322434.3	+	5	1940	c.1714C>T	c.(1714-1716)Cat>Tat	p.H572Y	ZNF354B_ENST00000522714.1_3'UTR	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	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)			TCAAAGAATTCATACTGGAGA	0.353000													22	42					0	0	1	0	0
FCHO2	115548	broad.mit.edu	37	5	72373276	72373276	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:72373276C>T	ENST00000430046.2	+	21	1919	c.1803C>T	c.(1801-1803)atC>atT	p.I601I	FCHO2_ENST00000341845.6_Silent_p.I601I|FCHO2_ENST00000512348.1_Silent_p.I568I	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	601										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TGAAAAATATCAGCAGACTAG	0.378000													5	7					0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55794637	55794637	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55794637G>A	ENST00000379665.2	+	1	424	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E109K(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGGATCAACAGAATTTTTTCT	0.368000													43	77					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913641	77913641	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:77913641C>T	ENST00000321110.1	-	2	572	c.277G>A	c.(277-279)Gat>Aat	p.D93N		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	93	Pro-rich.						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						GGTAGAAGATCCTGTGGCTCT	0.647000													14	3					0	0	1	0	0
VPS37C	55048	broad.mit.edu	37	11	60899664	60899664	+	Silent	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:60899664G>T	ENST00000301765.5	-	5	928	c.696C>A	c.(694-696)tcC>tcA	p.S232S		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	232	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						AGGAGGGCTGGGACACTACTG	0.682000													4	4					0.150653	0.150653	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66230878	66230878	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:66230878C>T	ENST00000273854.3	-	12	2693	c.2093G>A	c.(2092-2094)gGa>gAa	p.G698E	EPHA5_ENST00000511294.1_Missense_Mutation_p.G699E|EPHA5_ENST00000354839.4_Missense_Mutation_p.G676E|EPHA5_ENST00000432638.2_Missense_Mutation_p.G535E	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	698	Protein kinase.				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						TTCTCTTTTTCCTGGTAGTTT	0.353000										TSP Lung(17;0.13)			53	65					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670427	158670427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158670427G>A	ENST00000359610.2	-	1	59	c.16C>T	c.(16-18)Cga>Tga	p.R6*		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	6			R -> Q (in dbSNP:rs413029).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ATGGTGGTTCGATTGGGGCTC	0.428000													80	60					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39084581	39084581	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:39084581G>A	ENST00000209718.3	-	6	1254	c.830C>T	c.(829-831)cCa>cTa	p.P277L	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.P140L	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	277	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)				CACAGTGGCTGGACTGGCTGC	0.557000													89	112					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117248364	117248364	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:117248364C>T	ENST00000332958.2	+	17	2076	c.2060C>T	c.(2059-2061)cCc>cTc	p.P687L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	687					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	p.P687L(1)		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						CCCATTTATCCCACTCTCCCT	0.522000													57	84					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66838142	66838142	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:66838142G>A	ENST00000423207.2	+	15	2432	c.1947G>A	c.(1945-1947)ctG>ctA	p.L649L	PDE4B_ENST00000480109.2_Silent_p.L431L|PDE4B_ENST00000371049.3_Silent_p.L664L|PDE4B_ENST00000329654.4_Silent_p.L664L|PDE4B_ENST00000371045.5_Silent_p.L492L	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	664					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)	CACCACCACTGGACGAGCAGA	0.493000													66	54					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862657	10862657	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:10862657C>T	ENST00000559480.1	+	0	36																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TTTTGGTGGTCATAGCTGCGG	0.512000													51	639					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777662	43777662	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:43777662C>T	ENST00000389420.3	-	30	4570	c.4571G>A	c.(4570-4572)cGa>cAa	p.R1524Q		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1524	TSP type-1 12.					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)		ACTCCAACATCGCCTCTGAGA	0.468000													43	63					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110441590	110441590	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:110441590G>A	ENST00000378402.5	+	26	3126	c.3022G>A	c.(3022-3024)Gga>Aga	p.G1008R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1008					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)			CAACATTATTGGAGAAAAGGC	0.333000										HNSCC(38;0.096)			5	10					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110413811	110413811	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:110413811G>A	ENST00000378402.5	+	14	1471	c.1367G>A	c.(1366-1368)gGa>gAa	p.G456E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	456					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)			CTGCAGAAAGGAAAAGAGTAA	0.308000										HNSCC(38;0.096)			14	19					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185880852	185880852	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:185880852C>T	ENST00000271588.4	+	6	1069	c.840C>T	c.(838-840)atC>atT	p.I280I	HMCN1_ENST00000367492.2_Silent_p.I280I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	280					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						TATTAAATATCCATAACTCTG	0.383000													123	96					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551716	99551716	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:99551716G>A	ENST00000373034.4	-	6	4681	c.3006C>T	c.(3004-3006)gtC>gtT	p.V1002V	PCDH19_ENST00000255531.7_Silent_p.V955V|PCDH19_ENST00000420881.2_Silent_p.V954V	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1002					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						CATAAGCCTCGACATCAGCAG	0.582000													44	7					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123247617	123247617	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:123247617C>T	ENST00000358487.5	-	14	2146	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	FGFR2_ENST00000356226.4_Missense_Mutation_p.R508Q|FGFR2_ENST00000360144.3_Missense_Mutation_p.R537Q|FGFR2_ENST00000478859.1_Missense_Mutation_p.R397Q|FGFR2_ENST00000457416.2_Missense_Mutation_p.R626Q|FGFR2_ENST00000369060.4_Missense_Mutation_p.R509Q|FGFR2_ENST00000357555.5_Missense_Mutation_p.R536Q|FGFR2_ENST00000369061.4_Missense_Mutation_p.R513Q|FGFR2_ENST00000346997.2_Missense_Mutation_p.R623Q|FGFR2_ENST00000351936.6_Missense_Mutation_p.R623Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.R511Q|FGFR2_ENST00000369056.1_Missense_Mutation_p.R626Q	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	625	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)	TGCTAAATCTCGATGAATACA	0.323000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				58	57					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802353	185802353	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:185802353G>A	ENST00000302277.6	+	4	2824	c.2230G>A	c.(2230-2232)Gat>Aat	p.D744N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	744						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						TCTTCAAAATGATATGAAACA	0.338000													36	44					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62196247	62196247	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:62196247G>A	ENST00000467148.1	-	8	3997	c.3928C>T	c.(3928-3930)Ccg>Tcg	p.P1310S	HELZ2_ENST00000427522.2_Missense_Mutation_p.P741S	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator									p.P1310S(1)									TGGTCCGACGGGGGCACCCTC	0.672000													16	23					0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723110	58723110	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:58723110G>A	ENST00000300079.5	+	7	662	c.612G>A	c.(610-612)caG>caA	p.Q204Q	GLYATL1_ENST00000317391.4_Silent_p.Q173Q|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	173						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)	AGTATGCCCAGCTGGATGTCT	0.453000													38	42					0	0	1	0	0
PHF7	51533	broad.mit.edu	37	3	52453896	52453896	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:52453896C>T	ENST00000327906.3	+	5	894	c.234C>T	c.(232-234)ttC>ttT	p.F78F	PHF7_ENST00000478707.1_Silent_p.F78F|PHF7_ENST00000347025.2_Silent_p.F78F	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	78						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		ACAGAGGCTTCCATGGATTTC	0.498000													6	8					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46900039	46900039	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:46900039C>T	ENST00000359759.4	+	10	2633	c.2612C>T	c.(2611-2613)cCc>cTc	p.P871L	COL18A1_ENST00000355480.5_Missense_Mutation_p.P636L|COL18A1_ENST00000400337.2_Missense_Mutation_p.P456L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	871	Triple-helical region 2 (COL2).				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)		cctccagggcccccaggACCC	0.652000													17	19					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52469738	52469738	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:52469738G>C	ENST00000231721.2	-	16	2229	c.2230C>G	c.(2230-2232)Cgg>Ggg	p.R744G		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	744					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCCCGGCTCCGGCTCCGGAAG	0.667000													29	33					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63059014	63059014	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:63059014G>A	ENST00000332793.6	+	2	407	c.405G>A	c.(403-405)tgG>tgA	p.W135*	SLC22A10_ENST00000526800.1_Nonsense_Mutation_p.W83*|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_5'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	135						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						TCTTCCAGTGGGACCTGGTAT	0.463000													34	40					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57741518	57741518	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:57741518C>T	ENST00000360716.3	+	8	1226	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	CCDC135_ENST00000336825.8_Silent_p.F270F|CCDC135_ENST00000394337.4_Silent_p.F335F			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	335						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						ATGAGCACTTCCTGGGCATCG	0.562000													17	21					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50929253	50929253	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:50929253G>A	ENST00000442544.2	+	19	3541	c.2925G>A	c.(2923-2925)ggG>ggA	p.G975G	DCC_ENST00000581580.1_Silent_p.G610G|DCC_ENST00000412726.1_Silent_p.G803G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	975	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)		AAGCCAATGGGAAAATTACTG	0.532000													54	128					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409123	130409123	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:130409123C>T	ENST00000370904.1	-	23	4205	c.3295G>A	c.(3295-3297)Gag>Aag	p.E1099K	IGSF1_ENST00000361420.3_Missense_Mutation_p.E1108K|IGSF1_ENST00000370903.3_Missense_Mutation_p.E1113K|IGSF1_ENST00000370910.1_Missense_Mutation_p.E1099K			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1108	Ig-like C2-type 11.				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						CTCTGTTGCTCTAAAGGCTCC	0.512000													129	20					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158637774	158637774	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158637774C>T	ENST00000368148.3	-	15	2092	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E638K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	638					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	p.E638K(1)		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)					TGTATGTTTTCCAGCTGGGTC	0.443000													112	86					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175683	143175683	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:143175683C>T	ENST00000408916.1	+	1	718	c.718C>T	c.(718-720)Ctc>Ttc	p.L240F	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	240					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)					CATCTCCTTCCTCATTCTTTA	0.507000													30	37					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502463	140502463	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140502463G>A	ENST00000194152.1	+	1	883	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		295	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)			CTCAATAAATGAAGTCACGGG	0.363000													81	92					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72509720	72509720	+	Silent	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:72509720G>T	ENST00000373208.1	+	16	2415	c.2415G>T	c.(2413-2415)ctG>ctT	p.L805L	ADAMTS14_ENST00000373207.1_Silent_p.L802L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	802	Spacer.				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						GCGGGCCCCTGCCTGAAGCCA	0.642000													35	33					1.836e-18	1.8671e-18	1	1	0
SZRD1	26099	broad.mit.edu	37	1	16719944	16719944	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:16719944C>T	ENST00000401088.4	+	3	498	c.323C>T	c.(322-324)cCc>cTc	p.P108L	SZRD1_ENST00000375590.3_Missense_Mutation_p.P88L|SZRD1_ENST00000492354.1_Missense_Mutation_p.P88L|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000471507.1_Missense_Mutation_p.P107L|SZRD1_ENST00000401089.3_Missense_Mutation_p.P89L	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1			SUZ RNA binding domain containing 1																		AGCGCCAGCCCCGAGGAGGAG	0.672000													7	4					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170697488	170697488	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:170697488C>T	ENST00000476287.1	+	7	2505	c.2397C>T	c.(2395-2397)ttC>ttT	p.F799F	FAM120B_ENST00000540480.1_Silent_p.F811F|FAM120B_ENST00000252510.9_Silent_p.F131F|FAM120B_ENST00000537664.1_Silent_p.F822F	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	799					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CGAGTGATTTCATGCCCTGGA	0.498000													30	36					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1263153	1263153	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:1263153C>T	ENST00000308624.5	+	13	1146	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	SNTG2_ENST00000407292.1_Silent_p.F212F	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	339	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)		TGAGCACATTCGATTGGGTGC	0.383000													16	28					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109795402	109795402	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:109795402G>A	ENST00000271332.3	+	1	2762	c.2701G>A	c.(2701-2703)Gcc>Acc	p.A901T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	901	Cadherin 7.				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)		GATGCCCCCAGCCCGCACACC	0.547000													37	78					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47418065	47418065	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:47418065G>A	ENST00000361866.3	+	23	1669	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	519	Triple-helical region.				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)	AAATGGCACCGAGGGCTTCCC	0.667000													9	9					0	0	1	0	0
TMEM198	130612	broad.mit.edu	37	2	220412701	220412701	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:220412701T>C	ENST00000344458.2	+	4	1225	c.640T>C	c.(640-642)Tgc>Cgc	p.C214R	TMEM198_ENST00000373883.3_Missense_Mutation_p.C214R			Q66K66	TM198_HUMAN	transmembrane protein 198	214	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCCCCCACTCTGCTGGCGAAG	0.677000													3	4					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846469	123846469	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:123846469C>T	ENST00000369005.1	+	4	4794	c.4454C>T	c.(4453-4455)tCc>tTc	p.S1485F	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.S1485F|TACC2_ENST00000334433.3_Missense_Mutation_p.S1485F|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.S1485F|TACC2_ENST00000453444.2_Missense_Mutation_p.S1485F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1485						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)				GCTGAGATTTCCCATCTGGCT	0.592000													26	34					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113317143	113317143	+	Splice_Site	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:113317143A>G	ENST00000297405.5	-	52	8317	c.8071_splice	c.e52-1	p.V2691_splice	CSMD3_ENST00000352409.3_Splice_Site_p.V2621_splice|CSMD3_ENST00000343508.3_Splice_Site_p.V2651_splice|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2691	Sushi 15.					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						GACATGTAACAACTATACAAA	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	19					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35454298	35454298	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:35454298G>A	ENST00000378880.2	-	11	2214	c.1769C>T	c.(1768-1770)tCc>tTc	p.S590F	PAMR1_ENST00000378878.3_Missense_Mutation_p.S479F|PAMR1_ENST00000532848.1_Missense_Mutation_p.S550F|PAMR1_ENST00000278360.3_Missense_Mutation_p.S607F	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	590	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CTCCTGGAAGGAAGTGCTGAG	0.597000													21	25					0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84806183	84806183	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:84806183C>T	ENST00000219473.7	+	12	2148	c.2035C>T	c.(2035-2037)Cct>Tct	p.P679S	USP10_ENST00000570191.1_Missense_Mutation_p.P683S	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	679					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GGAAAAACTCCCTCCTGTCCT	0.458000													70	108					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21698901	21698901	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:21698901G>A	ENST00000388958.3	+	7	568	c.567G>A	c.(565-567)ggG>ggA	p.G189G	OTOA_ENST00000286149.4_Silent_p.G189G|OTOA_ENST00000388956.4_Silent_p.G110G	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	189					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GGTCCTCAGGGAGCTTTCTCC	0.547000													32	30					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165997477	165997477	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:165997477G>A	ENST00000360093.3	-	13	2194	c.1703C>T	c.(1702-1704)tCc>tTc	p.S568F	SCN3A_ENST00000283254.7_Missense_Mutation_p.S568F|SCN3A_ENST00000409101.3_Missense_Mutation_p.S568F	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	568						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)	GCGTCTTGGGGAAAACAGGGA	0.423000													11	24					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53621199	53621199	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:53621199G>A	ENST00000425354.2	-	3	618	c.131C>T	c.(130-132)cCt>cTt	p.P44L	RARG_ENST00000543762.1_Intron|RARG_ENST00000394426.1_Missense_Mutation_p.P44L|RARG_ENST00000327550.3_Intron	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	44	Modulating.				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)	CCGGAAGCTAGGGCTCAGCAT	0.622000													23	31					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77442781	77442781	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:77442781C>T	ENST00000451710.3	-	7	991	c.754G>A	c.(754-756)Gat>Aat	p.D252N	TRPM6_ENST00000449912.2_Missense_Mutation_p.D247N|TRPM6_ENST00000376864.4_Missense_Mutation_p.D252N|TRPM6_ENST00000376871.3_Missense_Mutation_p.D252N|TRPM6_ENST00000376872.3_Missense_Mutation_p.D252N|TRPM6_ENST00000361255.3_Missense_Mutation_p.D247N|TRPM6_ENST00000360774.1_Missense_Mutation_p.D252N|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000359047.2_Missense_Mutation_p.D252N			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	252					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						GTCCCATCATCAGACAGGATG	0.507000													46	52					0	0	1	0	0
PDP2	57546	broad.mit.edu	37	16	66919119	66919119	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:66919119C>T	ENST00000311765.2	+	2	1266	c.932C>T	c.(931-933)gCc>gTc	p.A311V	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	311					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GACCACAATGCCTGGAACCAG	0.587000													29	42					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54554962	54554962	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:54554962G>A	ENST00000566473.2	+	15	1896	c.1896G>A	c.(1894-1896)aaG>aaA	p.K632K	ANKFN1_ENST00000318698.2_Silent_p.K632K			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	632										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TTACCCAAAAGTTGCCCAACA	0.403000													42	70					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15762492	15762492	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:15762492G>A	ENST00000399451.2	-	8	1203	c.836C>T	c.(835-837)gCt>gTt	p.A279V	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.A312V	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	279						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TGATGCAGCAGCAAAGTGCAA	0.383000													73	97					0	0	1	0	0
PLGLA	285189	broad.mit.edu	37	2	107007391	107007391	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:107007391G>A	ENST00000484422.1	+	0	240																											GACTGGGAATGGAAAGAACTA	0.463000													8	18					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539409	56539409	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:56539409G>A	ENST00000390649.3	+	7	1810	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	604						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)		CCTGGAAATCGAGCCAGCTCT	0.522000													12	23					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77454973	77454973	+	Missense_Mutation	SNP	C	C	T	rs150874152	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:77454973C>T	ENST00000451710.3	-	5	748	c.511G>A	c.(511-513)Gga>Aga	p.G171R	TRPM6_ENST00000449912.2_Missense_Mutation_p.G166R|TRPM6_ENST00000376864.4_Missense_Mutation_p.G171R|TRPM6_ENST00000376871.3_Missense_Mutation_p.G171R|TRPM6_ENST00000376872.3_Missense_Mutation_p.G171R|TRPM6_ENST00000361255.3_Missense_Mutation_p.G166R|TRPM6_ENST00000360774.1_Missense_Mutation_p.G171R|TRPM6_ENST00000359047.2_Missense_Mutation_p.G171R			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	171					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						ATCCACGCTCCTGTTGTCTCT	0.488000													45	55					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66504328	66504328	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:66504328C>T	ENST00000360242.5	+	2	445	c.328C>T	c.(328-330)Cga>Tga	p.R110*	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Nonsense_Mutation_p.R110*|CCDC102B_ENST00000358653.5_Nonsense_Mutation_p.R110*|CCDC102B_ENST00000319445.6_Nonsense_Mutation_p.R110*	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	110								p.R110*(1)		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)				GAGTAAAGTTCGAGCTGAAAG	0.463000													64	120					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949127	89949127	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:89949127C>T	ENST00000405460.2	+	20	3832	c.3736C>T	c.(3736-3738)Cca>Tca	p.P1246S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1246					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)		TATCTTGGATCCAGAGTGTTT	0.463000													32	36					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13931251	13931251	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:13931251C>T	ENST00000265104.4	-	2	264	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	54	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E54K(2)		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)					TCCTCCACTTCGGTTTTGTTC	0.488000									Kartagener syndrome				50	74					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176002428	176002428	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:176002428G>A	ENST00000510636.1	+	9	1042		c.e9+1		CDHR2_ENST00000506348.1_Splice_Site|CDHR2_ENST00000261944.5_Splice_Site	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2						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						TGCAGCCAAGGTGCACGGGGG	0.637000													22	42					0	0	1	0	0
HOXB13	10481	broad.mit.edu	37	17	46805399	46805399	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:46805399C>T	ENST00000290295.7	-	1	1141	c.557G>A	c.(556-558)gGa>gAa	p.G186E		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	186					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						GTTCTGTTCTCCCTGGCAACA	0.577000													31	45					0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5013262	5013262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5013262C>T	ENST00000380390.1	+	6	880	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	MMP26_ENST00000300762.1_Nonsense_Mutation_p.Q222*			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	222					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTCTGGGAATCAGAGCTCCAT	0.423000													21	30					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13865994	13865994	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:13865994G>A	ENST00000265104.4	-	27	4242	c.4138C>T	c.(4138-4140)Cgg>Tgg	p.R1380W	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1380	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)					ATGTATTTCCGATAGATATTA	0.318000									Kartagener syndrome				20	40					0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91432603	91432603	+	Missense_Mutation	SNP	C	C	T	rs141047785	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:91432603C>T	ENST00000328850.3	+	6	878	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	FES_ENST00000450438.2_Missense_Mutation_p.R188W|FES_ENST00000444422.2_Missense_Mutation_p.R246W|FES_ENST00000414248.2_Missense_Mutation_p.R188W|FES_ENST00000394302.1_Missense_Mutation_p.R188W|FES_ENST00000394300.3_Missense_Mutation_p.R188W	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	246	Important for interaction with membranes containing phosphoinositides.		R -> Q (in dbSNP:rs34573430).		axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCCATTCACCGGGAGATGGC	0.632000													28	42					0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876036	74876036	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:74876036C>T	ENST00000331628.3	-	2	659	c.412G>A	c.(412-414)Gag>Aag	p.E138K	SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.E138K	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	138					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CTCACCTCCTCTTCCTCCTGG	0.512000													44	18					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49693900	49693900	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:49693900G>A	ENST00000296452.4	+	5	7025	c.6911G>A	c.(6910-6912)gGg>gAg	p.G2304E		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2304					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)		ATGCCAGTAGGGGCTGCACGG	0.647000													25	16					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113421248	113421248	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:113421248C>T	ENST00000297405.5	-	33	5653	c.5409G>A	c.(5407-5409)caG>caA	p.Q1803Q	CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Silent_p.Q1763Q|CSMD3_ENST00000455883.2_Silent_p.Q1699Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1803	CUB 10.					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						AAAATACAAACTGGCCAAACA	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			46	53					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327830	152327830	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:152327830C>T	ENST00000388718.5	-	3	2504	c.2432G>A	c.(2431-2433)gGa>gAa	p.G811E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	811	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)			TGAGCCTGATCCATATTGGCC	0.522000													206	501					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14549187	14549187	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:14549187C>T	ENST00000273083.3	-	0	2164							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						GAATGCGGTCCCCCACGTGGA	0.612000													24	26					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325136	79325136	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:79325136G>A	ENST00000428286.1	-	8	2177	c.977C>T	c.(976-978)tCa>tTa	p.S326L	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S685L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	685					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.S685*(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCTTTCCATGATTCAGGGCT	0.473000													16	27					0	0	1	0	0
LRRC1	55227	broad.mit.edu	37	6	53747701	53747701	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:53747701C>T	ENST00000370888.1	+	4	650	c.373C>T	c.(373-375)Cct>Tct	p.P125S	LRRC1_ENST00000370882.1_Missense_Mutation_p.P125S	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	125						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AGAAAGCTTTCCTGAATTACA	0.303000													10	37					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139277969	139277969	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:139277969G>A	ENST00000395297.1	-	4	444	c.274C>T	c.(274-276)Cat>Tat	p.H92Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	92										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)			AAGAGTAAATGAACTCGGAAG	0.473000										HNSCC(54;0.14)			37	34					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100368858	100368858	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:100368858C>T	ENST00000281806.2	-	6	1295	c.981G>A	c.(979-981)aaG>aaA	p.K327K	MCHR2_ENST00000369212.1_Silent_p.K327K|MCHR2_ENST00000445970.1_Silent_p.K327K	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	327						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)		TGTTGATTTCCTTCTCAGTCG	0.408000													63	66					0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12351356	12351356	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:12351356G>A	ENST00000269143.3	-	11	1606	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	459					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GCGGGGTCCAGGATATCTGGT	0.473000													39	36					0	0	1	0	0
DCTN4	51164	broad.mit.edu	37	5	150110993	150110993	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:150110993G>A	ENST00000447998.2	-	6	711	c.596C>T	c.(595-597)aCc>aTc	p.T199I	DCTN4_ENST00000446090.2_Missense_Mutation_p.T206I|DCTN4_ENST00000424236.1_Missense_Mutation_p.T142I	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	199						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGGCAAGGGTACTGATGGA	0.393000													14	20					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323225	29323225	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:29323225G>A	ENST00000377154.1	-	4	1047	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F	OR5V1_ENST00000543825.1_Missense_Mutation_p.L250F			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	250					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						CCATAAAAGAGAAAGACAATG	0.448000													48	138					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087098	9087098	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9087098C>T	ENST00000397910.4	-	1	4920	c.4717G>A	c.(4717-4719)Gat>Aat	p.D1573N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1573	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						GATGTTTGATCTTTGAGTGAC	0.502000													85	131					0	0	1	0	0
PDAP1	11333	broad.mit.edu	37	7	98995508	98995508	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:98995508C>T	ENST00000350498.3	-	5	744	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	PDAP1_ENST00000496335.1_5'UTR	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	155					cell proliferation|signal transduction			p.R155Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	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)		Becaplermin(DB00102)	TTCCTTCTTCCGGGCAGCCTC	0.612000													33	55					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89391114	89391114	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:89391114G>A	ENST00000336596.2	+	5	1405	c.1180G>A	c.(1180-1182)Gtg>Atg	p.V394M	EPHA3_ENST00000452448.2_Missense_Mutation_p.V394M|EPHA3_ENST00000494014.1_Missense_Mutation_p.V394M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	394	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CAACACCACGGTGACAGTGAC	0.488000										TSP Lung(6;0.00050)			38	52					0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80567214	80567214	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:80567214G>A	ENST00000220876.7	+	4	779	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	STMN2_ENST00000518491.1_Missense_Mutation_p.E122K|STMN2_ENST00000518111.1_Missense_Mutation_p.E133K	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	133					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			GATGGCGGAGGAAAAGCTGAT	0.468000													23	34					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738873	138738873	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:138738873G>A	ENST00000329447.5	-	1	895	c.631C>T	c.(631-633)Cca>Tca	p.P211S	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	211	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGGGGCGTGGAGAACGTCTC	0.617000													26	33					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25373588	25373588	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:25373588C>T	ENST00000255324.5	+	12	1507	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	RNF17_ENST00000381921.1_Silent_p.I485I|RNF17_ENST00000255325.5_Silent_p.I486I	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	485					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)		GAGGAACTATCACAGAATTAA	0.323000													41	62					0	0	1	0	0
GCFC2	6936	broad.mit.edu	37	2	75907426	75907426	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:75907426G>A	ENST00000321027.3	-	12	1838	c.1705C>T	c.(1705-1707)Ctt>Ttt	p.L569F	MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000409857.3_Missense_Mutation_p.L531F|GCFC2_ENST00000541687.1_3'UTR	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	569					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L569I(1)									GGATCCCAAAGGAATTCTACA	0.313000													24	45					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89421791	89421791	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:89421791C>T	ENST00000532352.1	+	0	1461							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						TTGAGGTGTTCTTCCAACGAC	0.313000													50	80					0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52741619	52741619	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:52741619C>T	ENST00000306051.2	+	2	1119	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	PTGDR_ENST00000553372.1_3'UTR	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	339						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	ACAAGATTTTCATTAGACCTC	0.403000													7	25					0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085802	42085802	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:42085802C>T	ENST00000407170.2	+	4	950	c.137C>T	c.(136-138)tCt>tTt	p.S46F	CEACAM21_ENST00000187608.9_Missense_Mutation_p.S174F|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000401445.2_Missense_Mutation_p.S174F			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	174						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						ACTGGAACCTCTTTCCAGTGG	0.537000													26	31					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155761178	155761178	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:155761178A>G	ENST00000159060.2	-	6	682	c.580T>C	c.(580-582)Ttc>Ctc	p.F194L		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	194	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGTCTGATGAACTCAGTTGAC	0.478000													36	37					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4576290	4576290	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:4576290G>A	ENST00000301396.4	-	16	2653	c.2428C>T	c.(2428-2430)Cat>Tat	p.H810Y	PELP1_ENST00000574876.1_Missense_Mutation_p.H666Y|PELP1_ENST00000436683.2_Missense_Mutation_p.H519Y|PELP1_ENST00000269230.7_Silent_p.S576S|PELP1_ENST00000572293.1_Missense_Mutation_p.H716Y			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	666	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						CCCGGAGGATGGAACGGTGGG	0.721000													17	23					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767432	181767432	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:181767432C>T	ENST00000526775.1	+	46	6383	c.6218C>T	c.(6217-6219)aCa>aTa	p.T2073I	CACNA1E_ENST00000367567.4_Missense_Mutation_p.T1699I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T2116I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T2092I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T2135I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T2086I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T2024I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2135					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						ATACAGGGCACAGGTTCCCTA	0.552000													101	79					0	0	1	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231367	29231367	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:29231367G>A	ENST00000441381.1	+	0	79																											CATCGAGGAAGACTCACAGGA	0.473000													60	150					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31632894	31632894	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:31632894G>A	ENST00000389082.5	-	3	797	c.533C>T	c.(532-534)tCc>tTc	p.S178F	DENND5B_ENST00000306833.6_Missense_Mutation_p.S213F|DENND5B_ENST00000536562.1_Missense_Mutation_p.S213F|DENND5B_ENST00000354285.4_Missense_Mutation_p.S200F|DENND5B_ENST00000545147.1_Intron	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	178						integral to membrane				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						AATATCATAGGAGTTGTATCG	0.418000													34	57					0	0	1	0	0
GPR22	2845	broad.mit.edu	37	7	107115402	107115402	+	Silent	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:107115402A>G	ENST00000304402.4	+	3	2240	c.897A>G	c.(895-897)aaA>aaG	p.K299K	COG5_ENST00000475638.2_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	299						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						GAGCTGTGAAACGACACCGTG	0.413000													40	61					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	55999986	55999986	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:55999986T>A	ENST00000313264.4	-	1	751	c.676A>T	c.(676-678)Att>Ttt	p.I226F		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	226					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)					GAATAAGAAATAGCAAGGAGA	0.418000													89	142					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111496	57111496	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:57111496G>A	ENST00000454682.1	-	3	4099	c.3818C>T	c.(3817-3819)tCc>tTc	p.S1273F	NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_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						TCCTTTTAGGGAGGGAGGAGT	0.652000			T	BCL6	NHL								30	45					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94035004	94035004	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:94035004G>A	ENST00000297268.6	+	11	977	c.506G>A	c.(505-507)gGa>gAa	p.G169E		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	169					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)	GGTTTCCCTGGAACTCCTGGA	0.373000										HNSCC(75;0.22)			45	79					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23887522	23887522	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:23887522C>T	ENST00000355349.3	-	30	4228	c.4066G>A	c.(4066-4068)Gag>Aag	p.E1356K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1356			E -> K (in CMH1).	E -> R (in Ref. 14; CAA27381).	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	p.E1356K(1)		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)		CGCTGCAGCTCGGCCTTGGCC	0.667000													50	34					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77672205	77672205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:77672205G>A	ENST00000360084.5	-	59	9240	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.A2990A|MYCBP2_ENST00000544440.2_Silent_p.A2990A|MYCBP2_ENST00000407578.2_Silent_p.A3028A			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2994					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)		TGGCACATTCGGCCACAGAAG	0.453000													55	64					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423248	26423248	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:26423248G>A	ENST00000335473.7	+	43	7558	c.7308G>A	c.(7306-7308)aaG>aaA	p.K2436K	MYO18B_ENST00000536101.1_Silent_p.K2436K|MYO18B_ENST00000407587.2_Silent_p.K2437K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2436						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						ACGAACGCAAGACCAAAGTGG	0.562000													49	18					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347349	91347349	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:91347349G>A	ENST00000358859.2	-	1	1604	c.1171C>T	c.(1171-1173)Ccc>Tcc	p.P391S	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		GGCACTTTGGGAATTATCTGC	0.413000													37	43					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57095528	57095528	+	Splice_Site	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:57095528A>G	ENST00000436936.1	+	32	4295		c.e32-1		NLRC5_ENST00000308149.7_Splice_Site|NLRC5_ENST00000262510.6_Splice_Site|NLRC5_ENST00000539144.1_Splice_Site			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5						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)				CTCTGTCTCCAGGCTGACCCA	0.672000													25	38					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791660	110791660	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:110791660C>T	ENST00000327908.3	+	4	1970	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	LRIT3_ENST00000409621.2_Silent_p.L402L|LRIT3_ENST00000594814.1_Silent_p.L585L|LRIT3_ENST00000379920.3_Silent_p.L540L			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	540						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CTCTCCTTCTCGTGGTGACCA	0.423000													45	89					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89417125	89417125	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:89417125G>A	ENST00000439576.2	+	17	7760	c.7386G>A	c.(7384-7386)aaG>aaA	p.K2462K	ACAN_ENST00000352105.7_Intron|ACAN_ENST00000559004.1_Silent_p.K2424K|ACAN_ENST00000561243.1_Silent_p.K2462K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2462					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)			TCGGGCAGAAGAAGGACCGGT	0.612000													12	18					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954501	70954501	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:70954501C>T	ENST00000393567.2	-	46	7928	c.7778G>A	c.(7777-7779)gGa>gAa	p.G2593E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2593										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)				TACCTGCTCTCCTTTGGGAAG	0.567000													11	16					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781480	128781480	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:128781480C>T	ENST00000529694.1	+	2	688	c.312C>T	c.(310-312)ttC>ttT	p.F104F	KCNJ5_ENST00000533599.1_Silent_p.F104F|KCNJ5_ENST00000338350.4_Silent_p.F104F	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	104					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.F104F(1)		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)	GGCTGTTCTTCGGCTTCATTT	0.527000													37	70					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113085183	113085183	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:113085183C>T	ENST00000316851.7	+	7	979	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.P336S|NCAM1_ENST00000533760.1_Missense_Mutation_p.P219S	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	337	Ig-like C2-type 4.				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)		AGACCCCATTCCCTCCATCAC	0.502000													6	19					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390349	158390349	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158390349G>A	ENST00000314902.2	-	1	307	c.308C>T	c.(307-309)tCc>tTc	p.S103F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GAAGAGGAAGGAAAACATTTG	0.483000													141	76					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220326617	220326617	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:220326617C>T	ENST00000312358.7	+	7	2586	c.2454C>T	c.(2452-2454)tcC>tcT	p.S818S	SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_Silent_p.S26S|SPEG_ENST00000396689.2_5'UTR|SPEG_ENST00000396688.1_5'UTR|SPEG_ENST00000396686.1_5'UTR|SPEG_ENST00000396698.1_Silent_p.S714S	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	818					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)		GGTCTACATCCCCTTTCAGCA	0.632000													18	65					0	0	1	0	0
C11orf35	256329	broad.mit.edu	37	11	555070	555070	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:555070G>A	ENST00000329451.3	-	14	1877	c.1815C>T	c.(1813-1815)gcC>gcT	p.A605A		NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	605										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-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;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCACCGACAGGGCCACCAGGG	0.751000													4	6					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16248591	16248591	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:16248591C>T	ENST00000205557.7	-	29	4131	c.4102G>A	c.(4102-4104)Gac>Aac	p.D1368N		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1368	ABC transporter 2.				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)		ATAGCCTCGTCCGAGTGCTCC	0.672000													6	8					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160998276	160998276	+	Missense_Mutation	SNP	C	C	T	rs147235826	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:160998276C>T	ENST00000447678.1	-	29	4643	c.4523G>A	c.(4522-4524)cGg>cAg	p.R1508Q	LPA_ENST00000316300.5_Missense_Mutation_p.R1508Q	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4016	Kringle 14.				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)	TCGATAACTCCGTCCATCACC	0.453000													74	97					0	0	1	0	0
GLIPR1	11010	broad.mit.edu	37	12	75875685	75875685	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:75875685G>A	ENST00000266659.3	+	2	447	c.246G>A	c.(244-246)cgG>cgA	p.R82R		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	82					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						ATAATACACGGCTGAAGCCAC	0.478000													54	90					0	0	1	0	0
NFKBIE	4794	broad.mit.edu	37	6	44230295	44230295	+	Splice_Site	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:44230295A>G	ENST00000275015.5	-	2	885		c.e2+1			NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon						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)			CTCGCCACCAACCTGGTAAAG	0.542000													16	41					0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71531763	71531763	+	Silent	SNP	G	G	A	rs138372272		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:71531763G>A	ENST00000393330.2	-	9	966	c.414C>T	c.(412-414)ttC>ttT	p.F138F	TSPAN8_ENST00000247829.3_Silent_p.F138F|TSPAN8_ENST00000552128.1_Silent_p.F55F|TSPAN8_ENST00000546561.1_Silent_p.F138F			P19075	TSN8_HUMAN	tetraspanin 8	138					protein glycosylation	integral to membrane|lysosome	signal transducer activity	p.F138F(1)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TGGCTTCCTGGAATTGTTTTT	0.328000													57	70					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41245731	41245731	+	Missense_Mutation	SNP	G	G	A	rs80359886		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:41245731G>A	ENST00000309486.4	-	9	1956	c.929C>T	c.(928-930)cCt>cTt	p.P310L	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.P559L|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.P606L|BRCA1_ENST00000357654.3_Missense_Mutation_p.P606L|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.P606L|BRCA1_ENST00000354071.3_Missense_Mutation_p.P606L	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	606					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATTCTTTTTAGGTGCTTTTGA	0.378000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			37	66					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997965	115997965	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:115997965C>T	ENST00000264363.2	-	2	906	c.228G>A	c.(226-228)acG>acA	p.T76T		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	76	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)		CAGTAGGGTCCGTTTTGGATG	0.418000													53	57					0	0	1	0	0
CACNB1	782	broad.mit.edu	37	17	37340059	37340059	+	Silent	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:37340059G>T	ENST00000394303.3	-	11	1164	c.957C>A	c.(955-957)gtC>gtA	p.V319V	CACNB1_ENST00000394310.3_Silent_p.V319V|CACNB1_ENST00000344140.5_Silent_p.V364V	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	319					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CATCCAGAGCGACCAACTGAA	0.577000													17	14					1.15088e-07	1.15674e-07	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54542603	54542603	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:54542603G>A	ENST00000545554.1	+	7	3409	c.3409G>A	c.(3409-3411)Gaa>Aaa	p.E1137K	UNC13C_ENST00000260323.11_Missense_Mutation_p.E1137K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1135K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1137					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)		GAAATGCCACGAAAAGTGTCA	0.507000													32	32					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197070446	197070446	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:197070446G>A	ENST00000367409.4	-	18	8191	c.7935C>T	c.(7933-7935)ctC>ctT	p.L2645L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2645	IQ 28.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTCTAAGGTGGAGATAATGCT	0.368000													15	42					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179193523	179193523	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:179193523T>A	ENST00000292599.3	+	2	1775	c.1512T>A	c.(1510-1512)aaT>aaA	p.N504K	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	504					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)			ACTCCGCGAATAACCAGGGGT	0.582000													21	36					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100349245	100349245	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:100349245C>T	ENST00000437033.2	-	4	849	c.347_splice	c.e4+1	p.D116_splice	ADH7_ENST00000482593.1_Splice_Site_p.D59_splice|ADH7_ENST00000209665.4_Splice_Site_p.D128_splice|ADH7_ENST00000476959.1_Splice_Site_p.D136_splice			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	128					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	GAAACCTACTCGCTCCTAATG	0.343000													52	67					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52557692	52557692	+	Missense_Mutation	SNP	C	C	T	rs145640449		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:52557692C>T	ENST00000321725.6	+	66	7391	c.7315C>T	c.(7315-7317)Cgt>Tgt	p.R2439C		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2439	FAS1 7.				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)		TGTGGTTAGCCGTATCATTGT	0.632000													19	21					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532853	92532853	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:92532853G>A	ENST00000298047.6	+	9	6691	c.6674G>A	c.(6673-6675)gGg>gAg	p.G2225E	FAT3_ENST00000409404.2_Missense_Mutation_p.G2225E|FAT3_ENST00000525166.1_Missense_Mutation_p.G2075E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2225	Cadherin 20.				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)				ATTATCGATGGGGACCCTTTT	0.413000										TCGA Ovarian(4;0.039)			9	16					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39932456	39932456	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:39932456T>A	ENST00000342274.4	-	4	2505	c.2143A>T	c.(2143-2145)Acc>Tcc	p.T715S	BCOR_ENST00000397354.3_Missense_Mutation_p.T715S|BCOR_ENST00000378455.4_Missense_Mutation_p.T715S|BCOR_ENST00000378444.4_Missense_Mutation_p.T715S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	715					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCTTGGTAGGTCACAAACTCT	0.557000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						34	7					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75248725	75248725	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:75248725C>T	ENST00000325680.7	+	4	2103	c.1979C>T	c.(1978-1980)tCg>tTg	p.S660L	YLPM1_ENST00000552421.1_Missense_Mutation_p.S660L|YLPM1_ENST00000238571.3_Missense_Mutation_p.S465L	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.S465L(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCACAGAGCTCGCAAGTTCCA	0.547000													24	8					0	0	1	0	0
TAC3	6866	broad.mit.edu	37	12	57407167	57407167	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:57407167T>C	ENST00000458521.2	-	4	373	c.214A>G	c.(214-216)Aag>Gag	p.K72E	TAC3_ENST00000415231.1_Missense_Mutation_p.K72E|TAC3_ENST00000441881.1_Missense_Mutation_p.K72E	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	72					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						GTTGATTCCTTAGGATCTGTG	0.507000													31	30					0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38828899	38828899	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:38828899G>A	ENST00000436693.2	-	2	2315	c.2196C>T	c.(2194-2196)atC>atT	p.I732I	TLR6_ENST00000381950.1_Silent_p.I732I	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	732	TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTAAGATGAGGATTAAGTTAT	0.448000													86	101					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670610	49670610	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:49670610G>A	ENST00000561648.1	-	4	2506	c.2453C>T	c.(2452-2454)gCc>gTc	p.A818V	ZNF423_ENST00000262383.2_Missense_Mutation_p.A818V|ZNF423_ENST00000562871.1_Missense_Mutation_p.A758V|ZNF423_ENST00000567169.1_Missense_Mutation_p.A701V|ZNF423_ENST00000535559.1_Missense_Mutation_p.A701V|ZNF423_ENST00000562520.1_Missense_Mutation_p.A758V|ZNF423_ENST00000563137.2_Missense_Mutation_p.A758V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	818					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)				CAGGATGATGGCGTGGAAGGC	0.572000													10	44					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368760	22368760	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:22368760T>C	ENST00000332663.2	+	1	283	c.185T>C	c.(184-186)cTg>cCg	p.L62P	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATGTATTTCCTGTTGGCTAAT	0.388000													137	309					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349887	100349887	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:100349887C>T	ENST00000542585.1	+	0	2307				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_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)			CCCACCATCCCCACAGAAAAA	0.512000													36	47					0	0	1	0	0
GUSBP11	91316	broad.mit.edu	37	22	23980968	23980968	+	RNA	SNP	T	T	A	rs13056126	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:23980968T>A	ENST00000390329.2	-	0	160				AP000347.4_ENST00000430707.2_RNA																							GGGCGTGGTCTTCTCCACGCT	0.562000													3	26					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16436006	16436006	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:16436006G>A	ENST00000380672.4	-	6	2243	c.2186C>T	c.(2185-2187)tCg>tTg	p.S729L	BNC2_ENST00000380666.2_Missense_Mutation_p.S729L|BNC2_ENST00000380667.2_Missense_Mutation_p.S662L|BNC2_ENST00000545497.1_Missense_Mutation_p.S634L	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTTGGGCTCCGAAGACTCAGA	0.512000													43	13					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43420354	43420354	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:43420354C>T	ENST00000601833.1	-	2	1420	c.137G>A	c.(136-138)gGa>gAa	p.G46E	PSG6_ENST00000402603.4_Missense_Mutation_p.G117E|PSG6_ENST00000292125.2_Missense_Mutation_p.G117E|PSG6_ENST00000187910.2_Missense_Mutation_p.G117E					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)				GGTGTAGGATCCTGCATCCTC	0.468000													170	230					0	0	1	0	0
PPP1R1A	5502	broad.mit.edu	37	12	54971308	54971308	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:54971308C>T	ENST00000547431.1	-	6	353	c.326G>A	c.(325-327)aGc>aAc	p.S109N	PDE1B_ENST00000550620.1_Intron|PDE1B_ENST00000538346.1_Intron|PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000243052.3_Intron			Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	0			E -> G (in dbSNP:rs1249958).		glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						TCCTCCCACGCTCTTCTGTCC	0.552000													26	36					0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70478281	70478281	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:70478281C>T	ENST00000381280.4	+	9	1190	c.937C>T	c.(937-939)Cca>Tca	p.P313S	SMOC1_ENST00000361956.3_Missense_Mutation_p.P313S	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	313					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CAGGGAGCTACCAGGTGGGAG	0.572000													17	6					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107678038	107678038	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:107678038C>T	ENST00000388781.3	-	30	4557	c.4474G>A	c.(4474-4476)Gaa>Aaa	p.E1492K	LAMB4_ENST00000205386.4_Missense_Mutation_p.E1492K|LAMB4_ENST00000388780.3_Missense_Mutation_p.E1492K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1492	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						GGCACGTTTTCCTCTTAAATA	0.398000													52	57					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967791	81967791	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:81967791C>T	ENST00000282701.2	+	2	1536	c.1216C>T	c.(1216-1218)Ccc>Tcc	p.P406S		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	406					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						ATGCCAGTTCCCCATGCCAAA	0.438000													94	106					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2815990	2815990	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:2815990C>T	ENST00000301740.8	+	11	6010	c.5461C>T	c.(5461-5463)Cac>Tac	p.H1821Y		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1821	Arg-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						CTCTGGTTATCACTCAAGGTC	0.632000													20	35					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49669613	49669613	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:49669613G>A	ENST00000561648.1	-	4	3503	c.3450C>T	c.(3448-3450)acC>acT	p.T1150T	ZNF423_ENST00000262383.2_Silent_p.T1150T|ZNF423_ENST00000562871.1_Silent_p.T1090T|ZNF423_ENST00000567169.1_Silent_p.T1033T|ZNF423_ENST00000535559.1_Silent_p.T1033T|ZNF423_ENST00000562520.1_Silent_p.T1090T|ZNF423_ENST00000563137.2_Silent_p.T1090T	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1150					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)				GGGGCCCACTGGTCTCCGGCG	0.652000													34	56					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41587911	41587911	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:41587911G>A	ENST00000402685.2	+	3	772	c.764G>A	c.(763-765)gGa>gAa	p.G255E		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	255	PDZ 1.						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)				TCGACTGAAGGAATTTACGTT	0.318000													7	24					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581512	82581512	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:82581512C>T	ENST00000423517.2	-	5	9094	c.8757G>A	c.(8755-8757)gtG>gtA	p.V2919V	PCLO_ENST00000333891.8_Silent_p.V2919V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2850					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						TTTTGGTCATCACACTTGAAG	0.433000													64	104					0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159840983	159840983	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:159840983A>G	ENST00000297151.4	-	4	715	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	110					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	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)			GTAATTATGGAATTCTATAAA	0.308000													24	27					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17491664	17491664	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:17491664G>A	ENST00000302539.4	-	3	521	c.396C>T	c.(394-396)ttC>ttT	p.F132F	ABCC8_ENST00000389817.3_Silent_p.F132F	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	132			F -> L (in PNDM; with neurologic features; reduces the sensitivity of the K(ATP) channel to inhibition by MgATP; increases whole-cell K(ATP) current).		carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCAGCTTGGGGAAGTTGGAAG	0.507000													18	23					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	407018	407018	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:407018C>T	ENST00000432829.2	+	28	3591	c.3275C>T	c.(3274-3276)aCc>aTc	p.T1092I	DOCK8_ENST00000453981.1_Missense_Mutation_p.T1160I|DOCK8_ENST00000469391.1_Missense_Mutation_p.T1060I|DOCK8_ENST00000382329.1_Missense_Mutation_p.T627I	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1160					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)		CACTTCCTCACCGGGCTCCTC	0.517000													39	13					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23701596	23701596	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:23701596G>A	ENST00000397312.2	-	5	768	c.494C>T	c.(493-495)tCa>tTa	p.S165L	ELAVL2_ENST00000544538.1_Missense_Mutation_p.S165L|ELAVL2_ENST00000380110.4_Missense_Mutation_p.S194L|ELAVL2_ENST00000380117.1_Missense_Mutation_p.S165L|ELAVL2_ENST00000223951.6_Missense_Mutation_p.S165L	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	165	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TACACCCCTTGATATGCCTAT	0.438000													42	15					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126412548	126412548	+	Silent	SNP	G	G	A	rs144832106		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:126412548G>A	ENST00000394329.3	+	17	14584	c.14571G>A	c.(14569-14571)agG>agA	p.R4857R	FAT4_ENST00000335110.5_Silent_p.R3098R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4857					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						AATATGACAGGGAGAAGCCAA	0.428000													46	62					0	0	1	0	0
ST13	6767	broad.mit.edu	37	22	41244301	41244301	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:41244301G>A	ENST00000216218.3	-	3	722	c.241C>T	c.(241-243)Cta>Tta	p.L81L		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	81							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TCCTCACCTAGATCACTTTCC	0.363000													24	7					0	0	1	0	0
LPPR2	64748	broad.mit.edu	37	19	11468409	11468409	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:11468409C>T	ENST00000251473.5	+	3	436	c.60C>T	c.(58-60)ttC>ttT	p.F20F	DKFZP761J1410_ENST00000591608.1_Silent_p.F20F|DKFZP761J1410_ENST00000586431.1_3'UTR	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					GCTTTGTCTTCGTGGAGGTGA	0.582000													17	26					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347704	140347704	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140347704C>T	ENST00000289269.5	+	1	1885	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S	PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		451	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCACATCCCTGCGTACAC	0.532000													79	112					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111398141	111398141	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:111398141G>A	ENST00000265162.5	+	1	913	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	191					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)	CCTGACCATGGAGTTCGCCGG	0.522000													56	67					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124012338	124012338	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:124012338C>T	ENST00000456829.2	+	16	2164	c.1913C>T	c.(1912-1914)cCt>cTt	p.P638L	VWA5A_ENST00000392748.1_Missense_Mutation_p.P638L|VWA5A_ENST00000360334.4_Missense_Mutation_p.L400F	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	638										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GACCGTCCTCCTTCTGCATCT	0.483000													60	74					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16205434	16205434	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:16205434C>T	ENST00000399408.2	+	23	3279	c.3104C>T	c.(3103-3105)tCa>tTa	p.S1035L	ABCC1_ENST00000346370.5_Missense_Mutation_p.S969L|ABCC1_ENST00000399410.3_Missense_Mutation_p.S1025L|ABCC1_ENST00000345148.5_Missense_Mutation_p.S1025L|ABCC1_ENST00000351154.5_Missense_Mutation_p.S966L|ABCC1_ENST00000349029.5_Missense_Mutation_p.S910L			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1025	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)	CTGGGCATTTCACAAGGTTGG	0.542000													11	12					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179477793	179477793	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179477793G>A	ENST00000589042.1	-	265	49879	c.49655C>T	c.(49654-49656)cCa>cTa	p.P16552L	TTN_ENST00000591111.1_Missense_Mutation_p.P14911L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P7487L|TTN_ENST00000342175.6_Missense_Mutation_p.P7679L|TTN_ENST00000342992.6_Missense_Mutation_p.P13984L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P7612L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14911	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)			AGGGGGCCATGGAGGATCTGC	0.368000													21	34					0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77257587	77257587	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:77257587C>T	ENST00000376896.2	+	4	1105	c.493C>T	c.(493-495)Cct>Tct	p.P165S	RORB_ENST00000396204.2_Missense_Mutation_p.P176S	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	176	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCAGCCGTCCCCTGATCAGTC	0.488000													24	48					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50136216	50136216	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:50136216C>T	ENST00000376025.2	-	0	1588							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)					CTTGAATTTTCGGAGGAAGAC	0.458000													23	1					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196303143	196303143	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:196303143C>T	ENST00000367433.5	-	17	1932	c.1831G>A	c.(1831-1833)Ggc>Agc	p.G611S	KCNT2_ENST00000367431.4_Missense_Mutation_p.G561S|KCNT2_ENST00000451324.2_Missense_Mutation_p.G222S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.G611S			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	611						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						AGGGTAGGGCCACTTGCTGAT	0.398000													17	61					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28852029	28852029	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	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													22	24					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752078	36752078	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:36752078C>T	ENST00000354618.5	+	4	471	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	THRAP3_ENST00000469141.2_Missense_Mutation_p.P83S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	83	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTATAGAAGGCCCTATTATTT	0.463000			T	USP6	aneurysmal bone cysts								55	134					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118881	194118881	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:194118881G>A	ENST00000401815.1	-	1	202	c.131C>T	c.(130-132)tCc>tTc	p.S44F	GP5_ENST00000323007.3_Missense_Mutation_p.S44F			P40197	GPV_HUMAN	glycoprotein V (platelet)	44	LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GCCTAGCGCGGAGATGCGCGC	0.697000													9	57					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1279655	1279655	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:1279655G>A	ENST00000381312.1	-	6	1819	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	498	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)		TGATCTCGTAGGGAGAGTGGA	0.557000													59	65					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	89998001	89998001	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:89998001G>A	ENST00000428670.3	-	16	3021	c.2565C>T	c.(2563-2565)ttC>ttT	p.F855F	ATP2B1_ENST00000393164.2_Silent_p.F598F|ATP2B1_ENST00000348959.3_Silent_p.F855F|ATP2B1_ENST00000261173.2_Silent_p.F855F|ATP2B1_ENST00000359142.3_Silent_p.F855F			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	855					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						GGAACTGAAGGAATTTTGAGA	0.383000													26	40					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720205	95720205	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:95720205C>T	ENST00000480546.1	-	0	1092					NR_002319.2																						CGTCGAGCCTCTCCCTGGATG	0.527000													32	43					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897258	36897258	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:36897258C>T	ENST00000301807.6	-	12	4070	c.2173G>A	c.(2173-2175)Gtg>Atg	p.V725M	TRANK1_ENST00000429976.2_Missense_Mutation_p.V1275M|TRANK1_ENST00000428977.2_Missense_Mutation_p.V725M	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1275					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						GTCACGTACACCCGGGGGTCA	0.483000													72	106					0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54678283	54678283	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:54678283C>T	ENST00000605337.1	+	5	990	c.942C>T	c.(940-942)atC>atT	p.I314I	MRPL37_ENST00000336230.6_Silent_p.I183I|MRPL37_ENST00000360840.5_Silent_p.I314I			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	314					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CCAAGATGATCCTGTTTGCTT	0.537000													110	78					0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9009479	9009479	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:9009479C>T	ENST00000377443.2	+	2	241	c.237C>T	c.(235-237)ccC>ccT	p.P79P	CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Silent_p.P79P|CA6_ENST00000319474.2_Silent_p.P79P|CA6_ENST00000377442.2_Intron	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	79					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGTTCCCCATGGTCAACA	0.592000													3	25					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31147119	31147119	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:31147119C>T	ENST00000349752.5	-	13	1885	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	GALNT14_ENST00000420311.2_Missense_Mutation_p.E381K|GALNT14_ENST00000406653.1_Missense_Mutation_p.E396K|GALNT14_ENST00000356174.3_Missense_Mutation_p.E383K|GALNT14_ENST00000324589.5_Missense_Mutation_p.E421K|GALNT14_ENST00000486564.1_Intron	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	416	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					ATGGAGGACTCCTTGGGGATG	0.527000													38	46					0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140057276	140057276	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140057276G>A	ENST00000504366.1	-	6	2305	c.486C>T	c.(484-486)ttC>ttT	p.F162F	HARS_ENST00000438307.2_Silent_p.F191F|HARS_ENST00000431330.2_Silent_p.F117F|HARS_ENST00000448240.1_Intron|HARS_ENST00000307633.3_Silent_p.F171F|HARS_ENST00000504156.1_Silent_p.F231F|HARS_ENST00000415192.2_Silent_p.F157F|HARS_ENST00000457527.2_Silent_p.F211F			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	231					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	AGATGGTACGGAACTTGCTGT	0.473000													64	89					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16272806	16272806	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:16272806C>T	ENST00000205557.7	-	18	2293	c.2264G>A	c.(2263-2265)gGa>gAa	p.G755E		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	755	ABC transporter 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)		CTTCTGGCCTCCGGAGAGATT	0.627000													24	25					0	0	1	0	0
HRH2	3274	broad.mit.edu	37	5	175110764	175110764	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:175110764C>T	ENST00000231683.2	+	1	2301	c.528C>T	c.(526-528)gtC>gtT	p.V176V	HRH2_ENST00000377291.2_Silent_p.V176V	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	176					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	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)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	AGTGCAAAGTCCAGGTCAATG	0.542000													31	32					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907815	12907815	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:12907815C>T	ENST00000317869.6	-	2	553	c.328G>A	c.(328-330)Gac>Aac	p.D110N		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						TAGTCCAAGTCAAAAGAGGAG	0.502000													9	57					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47746427	47746427	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:47746427C>T	ENST00000273857.4	-	5	790	c.791G>A	c.(790-792)gGa>gAa	p.G264E	CORIN_ENST00000504584.1_Missense_Mutation_p.G264E|CORIN_ENST00000502252.1_Missense_Mutation_p.G197E|CORIN_ENST00000505909.1_Missense_Mutation_p.G264E|CORIN_ENST00000508498.1_Missense_Mutation_p.G125E	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	264					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ACATTGCTTTCCGTTTTCCTG	0.378000													49	77					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64067393	64067393	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:64067393G>A	ENST00000443617.2	-	2	517	c.430C>T	c.(430-432)Cat>Tat	p.H144Y		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	144					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						CTAACAGAATGGACATCTGCT	0.448000													91	121					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158615103	158615103	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158615103C>T	ENST00000368148.3	-	29	4249	c.4069G>A	c.(4069-4071)Gac>Aac	p.D1357N	SPTA1_ENST00000368147.3_Missense_Mutation_p.D1357N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1357					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)					TGCCCACTGTCGATAAGTTCT	0.493000													47	104					0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90967748	90967748	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:90967748G>A	ENST00000265433.3	-	10	1314	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	NBN_ENST00000409330.1_Missense_Mutation_p.S305F	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	387					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTCCATTTTGGAGACTTTGAT	0.328000								Homologous recombination					22	24					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172501615	172501615	+	Translation_Start_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:172501615G>A	ENST00000367723.3	+	1	127	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CCAATCAGATGAGAGGATTCT	0.498000													13	22					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142658153	142658153	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:142658153G>A	ENST00000355265.2	-	4	736	c.262C>T	c.(262-264)Cat>Tat	p.H88Y	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	88					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)					GCCAGGTAATGATCCCGGAGA	0.542000													38	59					0	0	1	0	0
MIR524	574478	broad.mit.edu	37	19	54214279	54214279	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:54214279G>A	ENST00000385242.1	+	0	24					NR_030200.1																						CCCTACAAAGGGAAGCACTTT	0.433000													55	83					0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31134230	31134230	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:31134230G>A	ENST00000538351.1	-	8	2754	c.2000C>T	c.(1999-2001)tCc>tTc	p.S667F	ZNF438_ENST00000436087.2_Missense_Mutation_p.S716F|ZNF438_ENST00000375311.1_Missense_Mutation_p.S280F|ZNF438_ENST00000361310.3_Missense_Mutation_p.S716F|ZNF438_ENST00000331737.6_Missense_Mutation_p.S706F|ZNF438_ENST00000444692.2_Missense_Mutation_p.S706F|ZNF438_ENST00000413025.1_Missense_Mutation_p.S716F|ZNF438_ENST00000442986.1_Missense_Mutation_p.S716F|ZNF438_ENST00000452305.1_Missense_Mutation_p.S706F	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	716					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)				TTCCTCGGAGGAGGAATGAAC	0.537000													57	69					0	0	1	0	0
CALML4	91860	broad.mit.edu	37	15	68491924	68491924	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:68491924G>A	ENST00000540479.1	-	2	900	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	RP11-315D16.2_ENST00000562767.1_Intron|CALML4_ENST00000467889.1_Missense_Mutation_p.P87S|CALML4_ENST00000448060.2_Intron|CALML4_ENST00000395465.3_Intron			Q96GE6	CALL4_HUMAN	calmodulin-like 4	87							calcium ion binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						CCTGGCGTCGGGCTGGCCCCC	0.637000													44	71					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52561999	52561999	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:52561999C>T	ENST00000261839.7	-	8	1052	c.891G>A	c.(889-891)gtG>gtA	p.V297V	MYO5C_ENST00000541028.1_Intron|MYO5C_ENST00000443683.2_Silent_p.V240V	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	297	Myosin head-like.					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)		CTCGATCATTCACACCCTCAA	0.373000													54	83					0	0	1	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281473	145281473	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:145281473T>G	ENST00000369340.3	+	5	847	c.403T>G	c.(403-405)Ttc>Gtc	p.F135V	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.F135V|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.F135V|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.F135V			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	135	EGF-like 4.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CCTCACAGGCTTCACAGGGCA	0.552000													105	495					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915099	176915099	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:176915099C>T	ENST00000367654.2	-	13	2249	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.E738K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E738K|ASTN1_ENST00000367657.3_Missense_Mutation_p.E738K			O14525	ASTN1_HUMAN	astrotactin 1	746					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						GCAGCCACTTCCTTGGAATGG	0.473000													64	168					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238245121	238245121	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:238245121C>T	ENST00000295550.4	-	40	9074	c.8622G>A	c.(8620-8622)acG>acA	p.T2874T	COL6A3_ENST00000347401.3_Silent_p.T2673T|COL6A3_ENST00000346358.4_Silent_p.T2674T|COL6A3_ENST00000472056.1_Silent_p.T2267T|COL6A3_ENST00000409809.1_Silent_p.T2668T|COL6A3_ENST00000353578.4_Silent_p.T2668T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2874	Nonhelical region.|Thr-rich.				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)		TCACCGGCTTCGTTGTCGTCA	0.433000													70	102					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026818	79026818	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:79026818C>T	ENST00000446378.2	+	2	2261	c.2230C>T	c.(2230-2232)Cca>Tca	p.P744S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	744						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)		ATCGTTTACTCCAGCTGTGGC	0.468000													47	42					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73376575	73376575	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:73376575C>T	ENST00000377110.2	-	8	1457	c.1214G>A	c.(1213-1215)cGa>cAa	p.R405Q	TRPM3_ENST00000358082.3_Missense_Mutation_p.R277Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.R252Q|TRPM3_ENST00000377111.2_Missense_Mutation_p.R405Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.R252Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.R277Q|TRPM3_ENST00000360823.2_Missense_Mutation_p.R277Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.R407Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.R432Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.R277Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.R252Q|TRPM3_ENST00000377101.1_Missense_Mutation_p.R252Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.R252Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	430						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						AGCTTGGGTTCGAGTGTATGT	0.443000													23	51					0	0	1	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726189	168726189	+	Missense_Mutation	SNP	C	C	T	rs144099662	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:168726189C>T	ENST00000305861.1	+	2	991	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.R214W|AC016723.4_ENST00000436982.2_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	214					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.R214R(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGGACCGATTCGGGATGTCCG	0.438000													28	52					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33513459	33513459	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:33513459G>A	ENST00000268876.5	+	20	2774	c.2677G>A	c.(2677-2679)Gag>Aag	p.E893K	UNC45B_ENST00000378449.1_Missense_Mutation_p.E812K|UNC45B_ENST00000394570.2_Missense_Mutation_p.E891K|UNC45B_ENST00000591048.1_Missense_Mutation_p.E812K|UNC45B_ENST00000433649.1_Missense_Mutation_p.E891K	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	893					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)				TGAGCTGCTGGAGATCCTGAC	0.552000													28	35					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203424585	203424585	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:203424585C>T	ENST00000374580.4	+	13	3572	c.3033C>T	c.(3031-3033)tcC>tcT	p.S1011S	BMPR2_ENST00000374574.2_3'UTR	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	1011					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						CAGTTCATTCCAAATCCAGCA	0.473000													33	29					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637323	248637323	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248637323C>T	ENST00000359594.2	+	1	697	c.672C>T	c.(670-672)acC>acT	p.T224T		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	224					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)			GCTCATACACCCTCATCCTGC	0.562000													186	132					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883926	228883926	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:228883926G>A	ENST00000392056.3	-	7	1690	c.1644C>T	c.(1642-1644)tcC>tcT	p.S548S	SPHKAP_ENST00000344657.5_Silent_p.S548S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	548						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)		ACTCATTGATGGAAGGTTCCT	0.527000													64	90					0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36430389	36430389	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:36430389A>T	ENST00000588831.1	+	3	1116	c.62A>T	c.(61-63)cAg>cTg	p.Q21L	LRFN3_ENST00000246529.3_Missense_Mutation_p.Q21L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	21	LRRNT.				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)			TCCCCACCCCAGTCAGCCACA	0.706000													25	19					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43833320	43833320	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:43833320C>T	ENST00000319294.6	+	4	573	c.542C>T	c.(541-543)tCt>tTt	p.S181F	UBASH3A_ENST00000398367.1_Missense_Mutation_p.S181F|UBASH3A_ENST00000291535.6_Missense_Mutation_p.S181F	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	181						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACGGAAGCATCTCTCTTAGCA	0.612000													23	27					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221390	5221390	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5221390G>A	ENST00000321255.1	-	1	540	c.541C>T	c.(541-543)Cac>Tac	p.H181Y		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAAGGATGTGGAAATGACAG	0.393000													43	61					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107403095	107403095	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:107403095C>T	ENST00000418180.1	-	1	104	c.14G>A	c.(13-15)tGg>tAg	p.W5*	COL4A6_ENST00000372216.4_Intron|COL4A6_ENST00000334504.7_Intron|COL4A6_ENST00000538570.1_Intron|COL4A6_ENST00000394872.2_Intron|COL4A6_ENST00000545689.1_Intron			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	0					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						CCTCTCCTTCCAATCCTGTAA	0.453000									Alport syndrome with Diffuse Leiomyomatosis				12	2					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89429848	89429848	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:89429848G>A	ENST00000532352.1	+	0	1859							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						TTTCTGGAAAGAGCATTTATT	0.313000													27	30					0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25861881	25861881	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:25861881C>T	ENST00000397060.4	-	5	705	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	SLC17A3_ENST00000360657.3_Missense_Mutation_p.R121Q|SLC17A3_ENST00000361703.6_Missense_Mutation_p.R121Q	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	121					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						GAGTCTGCTTCGTTCTTGTGG	0.428000													30	90					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209791266	209791266	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:209791266C>T	ENST00000391911.1	-	19	3426	c.3037G>A	c.(3037-3039)Gac>Aac	p.D1013N	LAMB3_ENST00000367030.3_Missense_Mutation_p.D1013N|LAMB3_ENST00000356082.4_Missense_Mutation_p.D1013N	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	1013	Domain I.				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)		GCAACCCTGTCCTGGATAAGC	0.552000													70	49					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969086	5969086	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5969086C>T	ENST00000329564.6	+	1	517	c.510C>T	c.(508-510)ctC>ctT	p.L170L		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCACAACTCCGTTATTGTG	0.428000													67	90					0	0	1	0	0
IGLV2-8	28817	broad.mit.edu	37	22	23165518	23165518	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:23165518C>T	ENST00000390317.2	+	0	251																											CCCTCCGCGTCCGGGTCTCCT	0.587000													161	48					0	0	1	0	0
RHBDL2	54933	broad.mit.edu	37	1	39377005	39377005	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:39377005C>T	ENST00000289248.2	-	4	1505	c.497G>A	c.(496-498)gGa>gAa	p.G166E	RHBDL2_ENST00000538156.1_Missense_Mutation_p.G233E|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Missense_Mutation_p.G246E|RHBDL2_ENST00000372990.1_Missense_Mutation_p.G166E			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	166					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)			TGCAATCACTCCTGCCAGGTA	0.453000													49	42					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851563	43851563	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:43851563C>T	ENST00000372769.3	+	2	1380	c.1290C>T	c.(1288-1290)tcC>tcT	p.S430S		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	430	4 X 60 AA tandem repeats, type I.|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)				AAGGTGTATCCAAAGGCAGTA	0.378000													46	63					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62362495	62362495	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:62362495G>A	ENST00000278823.2	-	15	1920	c.1531C>T	c.(1531-1533)Cct>Tct	p.P511S	MTA2_ENST00000524902.1_Missense_Mutation_p.P338S|MTA2_ENST00000527204.1_Missense_Mutation_p.P338S	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	511					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CGCACCAGAGGGTGAATCTTC	0.542000													73	126					0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127912702	127912702	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:127912702G>A	ENST00000329722.7	+	6	940	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	310						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)		TCTTTGTACAGAAAAATCTAA	0.274000													8	20					0	0	1	0	0
HYAL3	8372	broad.mit.edu	37	3	50332230	50332230	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:50332230G>A	ENST00000336307.1	-	2	1076	c.804C>T	c.(802-804)ttC>ttT	p.F268F	HYAL3_ENST00000513170.1_Silent_p.F19F|HYAL3_ENST00000359051.3_Silent_p.F268F|HYAL3_ENST00000415204.1_Silent_p.F19F|HYAL3_ENST00000450982.1_Silent_p.F268F	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	268					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGGCCACACGGAAGGCCTCCT	0.652000													36	41					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141595313	141595313	+	Silent	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:141595313T>C	ENST00000220592.5	-	2	232	c.120A>G	c.(118-120)ttA>ttG	p.L40L	AGO2_ENST00000517293.1_5'UTR|AGO2_ENST00000519980.1_Silent_p.L40L	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		AATTGGCCTGTAATTTGATTG	0.498000													45	53					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10973664	10973664	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:10973664G>A	ENST00000304623.8	-	22	3768	c.3579C>T	c.(3577-3579)tcC>tcT	p.S1193S	CTNND2_ENST00000503622.1_Silent_p.S856S|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.S760S|CTNND2_ENST00000511377.1_Silent_p.S1102S|CTNND2_ENST00000359640.2_Silent_p.S1135S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1193					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						AGTTGCCGGTGGACTTGAGAC	0.562000													24	45					0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111618135	111618135	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:111618135G>A	ENST00000374667.3	-	1	1104	c.76C>T	c.(76-78)Cct>Tct	p.P26S		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	26						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						CTGGCGTCAGGGCCGGGCCGT	0.652000													31	51					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34662917	34662917	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:34662917G>A	ENST00000488417.1	+	2	532	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	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)				GATCCTGGTCGAAGAGAGTTC	0.572000													8	6					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188156	7188156	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:7188156C>T	ENST00000542285.1	-	11	1791	c.1642G>A	c.(1642-1644)Gag>Aag	p.E548K				P00736	C1R_HUMAN	complement component 1, r subcomponent	600	Peptidase S1.				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)	ATCTTCTCCTCCATGACCCCG	0.557000													27	20					0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436422	72436422	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:72436422C>T	ENST00000392627.1	+	2	1768	c.642C>T	c.(640-642)atC>atT	p.I214I	GPRC5C_ENST00000392629.2_Silent_p.I181I|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	169						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						TAGAGGTCATCATCAATACAG	0.647000													29	26					0	0	1	0	0
AIMP2	7965	broad.mit.edu	37	7	6054871	6054871	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:6054871C>T	ENST00000223029.3	+	2	349	c.230C>T	c.(229-231)tCc>tTc	p.S77F	AIMP2_ENST00000395236.2_Intron|AIMP2_ENST00000400479.2_5'UTR	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	77					apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GATGGCCTCTCCAAGATGATT	0.448000													61	70					0	0	1	0	0
GOLGA6C	653641	broad.mit.edu	37	15	75557692	75557692	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:75557692G>A	ENST00000300576.5	+	9	686	c.686G>A	c.(685-687)cGg>cAg	p.R229Q		NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	229										ovary(1)	1						CAGCTAGAGCGGGACGAATAT	0.547000													9	144					0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169831265	169831265	+	Silent	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:169831265G>T	ENST00000494943.1	-	11	2268	c.2200C>A	c.(2200-2202)Cgg>Agg	p.R734R	PHC3_ENST00000467570.1_Silent_p.R693R|PHC3_ENST00000495893.1_Silent_p.R746R			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	734					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AAAAGAGGCCGTTTTTTCACA	0.358000													10	26					4.68919e-08	4.71995e-08	1	1	0
AMTN	401138	broad.mit.edu	37	4	71396861	71396861	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:71396861G>A	ENST00000339336.4	+	8	593	c.463G>A	c.(463-465)Gca>Aca	p.A155T	AMTN_ENST00000504451.1_Missense_Mutation_p.A154T	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	155					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			AAGCCTTCCAGCAGGAGGAGC	0.597000													20	23					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276837	186276837	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:186276837G>A	ENST00000445192.2	+	7	2031	c.1986G>A	c.(1984-1986)gaG>gaA	p.E662E	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.E621E|PRG4_ENST00000367485.4_Silent_p.E569E|PRG4_ENST00000367486.3_Silent_p.E619E	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	662	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						CCACCCCTGAGGAGCCTGCTC	0.667000													33	82					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	39994485	39994485	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:39994485G>A	ENST00000308666.3	-	6	1669	c.1534C>T	c.(1534-1536)Ccc>Tcc	p.P512S		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	512	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.P512S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CAACCATTGGGACCAGTTATC	0.363000													41	58					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99538846	99538846	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:99538846G>A	ENST00000376460.1	-	19	2156	c.2076C>T	c.(2074-2076)ttC>ttT	p.F692F	DOCK9_ENST00000448493.2_Silent_p.F704F|DOCK9_ENST00000339416.2_Silent_p.F693F|DOCK9_ENST00000442173.1_Silent_p.F692F	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	693	DHR-1.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGCTTCTTGTGAAAACTGGCC	0.383000													14	26					0	0	1	0	0
LANCL1	10314	broad.mit.edu	37	2	211302426	211302426	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:211302426G>A	ENST00000443314.1	-	6	1203	c.861C>T	c.(859-861)atC>atT	p.I287I	AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000233714.4_Silent_p.I287I|LANCL1_ENST00000441020.3_Silent_p.I287I|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000450366.2_Silent_p.I287I|LANCL1_ENST00000431941.2_Silent_p.I287I			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	287						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TATAGGCCTGGATGAGCATGT	0.353000													24	43					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10777375	10777375	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:10777375G>A	ENST00000075503.3	-	8	1321	c.801C>T	c.(799-801)ctC>ctT	p.L267L		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	267	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CTAATCCACAGAGCTTAGCAG	0.488000										HNSCC(73;0.22)			83	96					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83251299	83251299	+	Silent	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:83251299T>C	ENST00000549919.1	+	3	2381	c.576T>C	c.(574-576)gtT>gtC	p.V192V	TMTC2_ENST00000548305.1_Silent_p.V198V|TMTC2_ENST00000321196.3_Silent_p.V198V			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	198						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						TTTCAGCAGTTTATGATGTCT	0.453000													34	40					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74411080	74411080	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:74411080G>A	ENST00000263665.6	-	10	1352	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	442	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTTCTTCCAGGAAGAGAGTGC	0.473000													22	42					0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70516441	70516441	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:70516441C>T	ENST00000535149.1	+	4	1053	c.410C>T	c.(409-411)cCc>cTc	p.P137L	NONO_ENST00000276079.8_Missense_Mutation_p.P226L|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.P226L|NONO_ENST00000373856.3_Missense_Mutation_p.P226L	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	226	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					ACTGTGGAGCCCATGGACCAG	0.433000			T	TFE3	papillary renal cancer								7	0					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7791188	7791188	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:7791188G>A	ENST00000358415.4	+	21	2898	c.2732G>A	c.(2731-2733)gGa>gAa	p.G911E	ITIH2_ENST00000379587.4_Missense_Mutation_p.G900E	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	911					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTAGTGTTTGGAACGGACGTT	0.488000													59	88					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54444857	54444857	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:54444857C>T	ENST00000391767.1	+	5	770	c.558C>T	c.(556-558)ttC>ttT	p.F186F	CACNG7_ENST00000222212.2_Silent_p.F186F|CACNG7_ENST00000391766.1_Silent_p.F186F			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	186					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)		CTTCCTCCTTCCTACTCAAAG	0.547000													43	74					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687772	61687772	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:61687772G>A	ENST00000577390.1	-	12	3094	c.2140C>T	c.(2140-2142)Cca>Tca	p.P714S	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	714					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)		TTTGGAACTGGAGCAAGCCCT	0.408000													74	71					0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38679305	38679305	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:38679305G>A	ENST00000267377.2	+	3	1328	c.711G>A	c.(709-711)ggG>ggA	p.G237G		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	237					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)	TGCCCGTGGGGGCTATCTGCC	0.612000													29	29					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248845119	248845119	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248845119G>A	ENST00000342623.3	-	1	510	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ACGTGCTCCCGAAACATGTTG	0.512000													18	60					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52831940	52831940	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:52831940G>A	ENST00000449956.2	+	6	663	c.657G>A	c.(655-657)ggG>ggA	p.G219G	ITIH3_ENST00000416872.2_Silent_p.G219G	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	219					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)		CCTTCTCAGGGAAAAAGGTGA	0.557000													3	5					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726580	63726580	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:63726580G>A	ENST00000421025.1	+	5	838	c.569G>A	c.(568-570)gGc>gAc	p.G190D	ZNF679_ENST00000255746.4_Missense_Mutation_p.G190D	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	190					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						AAAAAATATGGCAAATCATTT	0.348000													6	13					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38858436	38858436	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:38858436G>A	ENST00000359357.3	+	56	8085	c.7831G>A	c.(7831-7833)Gga>Aga	p.G2611R	DNAH8_ENST00000449981.2_Missense_Mutation_p.G2828R|DNAH8_ENST00000441566.1_Missense_Mutation_p.G2575R					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						AGGAATTATTGGATGTGGATA	0.358000													30	104					0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54725813	54725813	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:54725813G>A	ENST00000391750.1	-	5	681	c.545C>T	c.(544-546)cCt>cTt	p.P182L	LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000424807.1_Missense_Mutation_p.P182L|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000346401.6_Missense_Mutation_p.P182L|LILRB3_ENST00000407860.2_Missense_Mutation_p.P182L|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000245620.9_Missense_Mutation_p.P182L			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	182	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	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)		GGGGCCCACAGGGAACAGGGC	0.592000													3	4					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656001	40656001	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:40656001C>T	ENST00000406785.1	-	2	1609	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	SLC8A1_ENST00000406391.2_Missense_Mutation_p.E474K|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E474K|SLC8A1_ENST00000402441.1_Missense_Mutation_p.E474K|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E474K|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E474K|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E474K|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E474K|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E474K|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E474K			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	474	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)	ACTCTGATTTCCTTCTGGGTA	0.408000													29	41					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52676241	52676241	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:52676241T>G	ENST00000355568.4	-	10	936	c.797A>C	c.(796-798)tAt>tCt	p.Y266S		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	266							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)		AGGAGTCAAATATTTGGGAAT	0.413000													56	76					0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39219261	39219261	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:39219261G>A	ENST00000333039.2	-	4	1228	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	369	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AGGGGCAGCTGGGCCACCTGG	0.662000													13	1					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147743998	147743998	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:147743998G>A	ENST00000370460.2	+	3	1229	c.750G>A	c.(748-750)ggG>ggA	p.G250G	AFF2_ENST00000342251.3_Silent_p.G246G|AFF2_ENST00000370458.1_Silent_p.G246G|AFF2_ENST00000370457.5_Silent_p.G246G	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	250					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)					AAGCGCCTGGGTCTCCCCTAG	0.468000													115	16					0	0	1	0	0
ZNF320	162967	broad.mit.edu	37	19	53383907	53383907	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:53383907G>A	ENST00000595635.1	-	8	1973	c.1472C>T	c.(1471-1473)cCt>cTt	p.P491L	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.P491L|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GTCTCCAAAAGGAATTTTCTG	0.393000													18	90					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	78005774	78005774	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:78005774G>A	ENST00000302536.2	+	8	1258	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	369							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						GCGGATTCACGACCGAGGGAA	0.522000											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	139	178					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750482	79750482	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:79750482C>T	ENST00000305428.3	+	2	2068	c.1993C>T	c.(1993-1995)Cac>Tac	p.H665Y		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	665						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CCGGATGTTCCACGCACACAG	0.562000													88	104					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14801837	14801837	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:14801837G>A	ENST00000380881.4	-	21	4325	c.3510C>T	c.(3508-3510)tcC>tcT	p.S1170S	FREM1_ENST00000422223.2_Silent_p.S1169S|FREM1_ENST00000380880.3_Silent_p.S1169S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1169					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)		CGCTGATGATGGAAGAGTCCA	0.488000													55	8					0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100458902	100458902	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:100458902C>T	ENST00000514652.1	+	6	977	c.623C>T	c.(622-624)tCa>tTa	p.S208L	C4orf17_ENST00000326581.4_Missense_Mutation_p.S208L			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	208										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)		CATGCAACTTCAAAAGGTGCG	0.373000													31	47					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35614625	35614625	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:35614625G>A	ENST00000353139.5	-	14	2307	c.1826_splice	c.e14+1	p.S609_splice	ACACA_ENST00000394406.2_Splice_Site_p.S572_splice|ACACA_ENST00000360679.3_Splice_Site_p.S514_splice|ACACA_ENST00000335166.5_Splice_Site_p.S494_splice	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	572	Biotin carboxylation.				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)	TTATACTCACGAAATTGCCTC	0.388000													26	29					0	0	1	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107019922	107019922	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:107019922C>T	ENST00000369063.3	-	9	1605	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	RTN4IP1_ENST00000539449.1_3'UTR|RTN4IP1_ENST00000498091.1_5'UTR	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	380						mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TTTCCACCTTCAGGAAGGCTT	0.388000													38	46					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92959883	92959883	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:92959883C>T	ENST00000532405.1	+	17	2006	c.1780C>T	c.(1780-1782)Ctc>Ttc	p.L594F	SLC24A4_ENST00000393265.2_Missense_Mutation_p.L530F|SLC24A4_ENST00000351924.5_Missense_Mutation_p.L558F|SLC24A4_ENST00000298877.1_Missense_Mutation_p.L577F|SLC24A4_ENST00000531433.1_Missense_Mutation_p.L575F			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	594						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CGTGCTGGTTCTCTACGCCAT	0.547000													16	3					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168250332	168250332	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:168250332G>A	ENST00000519560.1	-	7	981	c.562C>T	c.(562-564)Ctc>Ttc	p.L188F	SLIT3_ENST00000404867.3_Missense_Mutation_p.L188F|SLIT3_ENST00000332966.8_Missense_Mutation_p.L188F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	188					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)			TTGTTGTTGAGGGTACTGTGG	0.532000													84	140					0	0	1	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088791	65088791	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:65088791C>T	ENST00000544348.1	+	2	1028	c.422C>T	c.(421-423)tCc>tTc	p.S141F	CDC42EP2_ENST00000533419.1_Missense_Mutation_p.S141F|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.S141F			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	141					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						CCTCAGCCTTCCCCACAGGAG	0.667000													27	23					0	0	1	0	0
SPATA31D3	389762	broad.mit.edu	37	9	84562561	84562561	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:84562561C>T	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							AGGTCTAACTCTGAGAGAGAC	0.468000													18	19					0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5730610	5730610	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5730610T>C	ENST00000379965.3	+	8	1506	c.1229T>C	c.(1228-1230)aTa>aCa	p.I410T	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	410	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TACTGGGTTATAGGATTACAG	0.388000													59	62					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830867	7830867	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:7830867C>T	ENST00000327325.5	+	4	676	c.558C>T	c.(556-558)acC>acT	p.T186T	CLEC4M_ENST00000596363.1_Silent_p.T158T|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000248228.4_Silent_p.T164T|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000357361.2_Silent_p.T186T|CLEC4M_ENST00000394122.2_Silent_p.T174T|CLEC4M_ENST00000359059.5_Silent_p.T142T|CLEC4M_ENST00000596707.1_Silent_p.T165T|CLEC4M_ENST00000334806.5_Silent_p.T135T	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	186	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AGGAGCTGACCCGGCTGAAGG	0.587000													8	161					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149227016	149227016	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:149227016C>T	ENST00000407073.1	+	9	2501	c.1504C>T	c.(1504-1506)Cca>Tca	p.P502S	MBD5_ENST00000404807.1_Missense_Mutation_p.P502S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	502						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)		GTCCCCAAGGCCATCAATGCC	0.458000													30	37					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78599592	78599592	+	Splice_Site	SNP	C	C	T	rs142199743	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:78599592C>T	ENST00000306801.3	+	2	626	c.265_splice	c.e2+1	p.I88_splice	RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000570891.1_Splice_Site_p.I88_splice|RPTOR_ENST00000544334.2_Splice_Site_p.I88_splice	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	88					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AATGCTGGATCGGTGAGTATG	0.622000													51	38					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50758449	50758449	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:50758449G>A	ENST00000404971.1	-	12	3722	c.2383C>T	c.(2383-2385)Ctg>Ttg	p.L795L	NRXN1_ENST00000405472.3_Silent_p.L747L|NRXN1_ENST00000406859.3_Silent_p.L755L|NRXN1_ENST00000402717.3_Silent_p.L747L|NRXN1_ENST00000401669.2_Silent_p.L755L|NRXN1_ENST00000406316.2_Silent_p.L755L|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	755	Laminin G-like 4.				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)			GTTGCCATCAGAATGCCATAT	0.517000													13	21					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551092	248551092	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248551092C>T	ENST00000355728.2	+	1	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			CCATGTACTTCCTCCTCAGCC	0.488000													74	49					0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	218999528	218999528	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:218999528G>A	ENST00000318507.2	+	3	431	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	2					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CTCAAAAATGGAAGATTTTAA	0.388000													30	39					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56057807	56057807	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:56057807G>A	ENST00000313022.2	-	1	759	c.732C>T	c.(730-732)ctC>ctT	p.L244L		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					TGACTCCCAAGAGATGAGAGG	0.363000													65	73					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36872902	36872902	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:36872902C>T	ENST00000301807.6	-	21	8287	c.6390G>A	c.(6388-6390)agG>agA	p.R2130R	TRANK1_ENST00000429976.2_Silent_p.R2680R|TRANK1_ENST00000428977.2_Silent_p.R2130R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2680					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						GGCATGCCCTCCTCAACTTCC	0.582000													13	13					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96652077	96652077	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:96652077C>T	ENST00000302103.5	+	3	1372	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	349					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)		GAATATAAGTCTGTTGGTAAT	0.333000													45	59					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2559842	2559842	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:2559842C>T	ENST00000358864.1	+	6	711	c.696C>T	c.(694-696)atC>atT	p.I232I		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	232	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						CTCAATGTATCCCCTGGGAAA	0.368000													10	25					0	0	1	0	0
WSB1	26118	broad.mit.edu	37	17	25638541	25638541	+	Silent	SNP	G	G	T	rs139922584		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:25638541G>T	ENST00000262394.2	+	8	1321	c.1005G>T	c.(1003-1005)gtG>gtT	p.V335V	WSB1_ENST00000348811.2_Silent_p.V189V	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	335					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TCAGAATGGTGAGGTTCTGGA	0.353000													27	29					6.38683e-12	6.45224e-12	1	1	0
IGSF1	3547	broad.mit.edu	37	X	130417192	130417192	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:130417192C>T	ENST00000370904.1	-	12	1597	c.687G>A	c.(685-687)atG>atA	p.M229I	IGSF1_ENST00000361420.3_Missense_Mutation_p.M238I|IGSF1_ENST00000370903.3_Missense_Mutation_p.M238I|IGSF1_ENST00000370910.1_Missense_Mutation_p.M229I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	238	Ig-like C2-type 3.				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						CTCCAGGTGCCATGATGGGCC	0.483000													33	3					0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10863043	10863043	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:10863043A>C	ENST00000381661.3	+	2	177	c.68A>C	c.(67-69)aAt>aCt	p.N23T	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.N23T	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	23					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GAGAGGATGAATACTGTAACC	0.443000													13	56					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46307544	46307544	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:46307544G>A	ENST00000359930.4	-	8	1920	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	SULF2_ENST00000361612.4_Missense_Mutation_p.P357S|SULF2_ENST00000484875.1_Missense_Mutation_p.P357S|SULF2_ENST00000467815.1_Missense_Mutation_p.P357S|CTD-2653D5.1_ENST00000526566.2_RNA	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	357					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	p.P357S(1)		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						ACGATGTGGGGATTCCTGGGG	0.617000													38	46					0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52556612	52556612	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	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													44	36					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058273	11058273	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:11058273C>T	ENST00000470054.1	-	0	374									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)		GGGTACATTTCTCTTCACAGC	0.418000													13	174					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267123	48267123	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:48267123C>T	ENST00000302329.3	+	1	516	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	156					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						TTCTCATCTTCCACCTGCTCT	0.493000													110	141					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954537	70954537	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:70954537C>T	ENST00000393567.2	-	46	7892	c.7742G>A	c.(7741-7743)tGg>tAg	p.W2581*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2581										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)				GGCCTGCTTCCAGCTCAAGCC	0.587000													12	17					0	0	1	0	0
TTLL13	440307	broad.mit.edu	37	15	90801341	90801341	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:90801341A>C	ENST00000438251.1	+	9	1297	c.1007A>C	c.(1006-1008)gAg>gCg	p.E336A	TTLL13_ENST00000339615.5_Missense_Mutation_p.E336A|RP11-697E2.6_ENST00000561573.1_Intron			A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	336	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GGGGACATCGAGGACATCATC	0.537000													63	81					0	0	1	0	0
CLEC18C	283971	broad.mit.edu	37	16	70219854	70219854	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:70219854C>T	ENST00000569347.2	+	11	1532	c.1278C>T	c.(1276-1278)acC>acT	p.T426T	CLEC18C_ENST00000536907.2_Silent_p.T435T|CLEC18C_ENST00000314151.8_Silent_p.T426T|CLEC18C_ENST00000541793.2_Silent_p.T426T	NM_173619.2	NP_775890.2			C-type lectin domain family 18, member C											endometrium(3)|large_intestine(6)|lung(1)	10						GCTGCAAAACCCGAAACCGTT	0.592000													19	57					0	0	1	0	0
ZNF763	284390	broad.mit.edu	37	19	12089301	12089301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:12089301C>T	ENST00000343949.5	+	4	726	c.571C>T	c.(571-573)Cga>Tga	p.R191*	ZNF763_ENST00000358987.3_Nonsense_Mutation_p.R188*|ZNF763_ENST00000590798.1_Nonsense_Mutation_p.R208*|ZNF763_ENST00000545530.1_Nonsense_Mutation_p.R66*|ZNF763_ENST00000538752.1_Nonsense_Mutation_p.R208*	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TTCAGGCATTCGAAGACGCAT	0.403000													78	111					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121745873	121745873	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:121745873G>A	ENST00000452319.1	+	14	2443	c.2383G>A	c.(2383-2385)Gag>Aag	p.E795K	GLI2_ENST00000361492.4_Missense_Mutation_p.E795K|GLI2_ENST00000314490.11_Missense_Mutation_p.E467K			P10070	GLI2_HUMAN	GLI family zinc finger 2	795	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)				GTCCGCGAGCGAGGTGACCAT	0.716000													9	2					0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98109795	98109795	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:98109795G>A	ENST00000383695.1	+	1	286	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	96					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						TACCCTGTATGAATGTATGGC	0.428000													131	210					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44261958	44261958	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:44261958C>T	ENST00000315087.7	-	6	1299	c.639G>A	c.(637-639)gtG>gtA	p.V213V	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.V182V|ST8SIA5_ENST00000538168.1_Silent_p.V249V	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	213					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TGCTGGGGTTCACAGTGACCA	0.547000													24	13					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891941	18891941	+	Silent	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:18891941T>C	ENST00000317658.3	+	1	897	c.739T>C	c.(739-741)Tta>Cta	p.L247L		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	247					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)				ATTACAGGAGTTATCCAATGA	0.433000													30	43					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	169985288	169985288	+	Missense_Mutation	SNP	G	G	A	rs142430940		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:169985288G>A	ENST00000263816.3	-	79	14138	c.13853C>T	c.(13852-13854)tCg>tTg	p.S4618L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4618					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)	AGCAGGGAGCGAAGGTGATGG	0.453000													51	71					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003508	122003508	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:122003508G>A	ENST00000498619.1	+	7	3175	c.2737G>A	c.(2737-2739)Gga>Aga	p.G913R	CASR_ENST00000296154.5_Missense_Mutation_p.G903R|CASR_ENST00000490131.1_Missense_Mutation_p.G903R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	903					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)	CAGCAGCCTTGGAGGCTCCAC	0.667000													24	36					0	0	1	0	0
SLC35A2	7355	broad.mit.edu	37	X	48763643	48763643	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:48763643G>A	ENST00000376512.1	-	3	484	c.452C>T	c.(451-453)cCa>cTa	p.P151L	SLC35A2_ENST00000413561.2_Intron|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000452555.2_Intron|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000247138.5_Intron|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376521.1_Intron			P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	0					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						TAGTTCCTCTGGGGCCATGCT	0.552000													7	2					0	0	1	0	0
MSANTD3	91283	broad.mit.edu	37	9	103204408	103204408	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:103204408C>T	ENST00000395067.2	+	2	459	c.188C>T	c.(187-189)tCc>tTc	p.S63F	MSANTD3_ENST00000374885.1_Missense_Mutation_p.S63F	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1			Myb/SANT-like DNA-binding domain containing 3											endometrium(2)|lung(2)	4						CCCAGCGTGTCCCTGCGGGAT	0.507000													20	24					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56241343	56241343	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:56241343G>A	ENST00000332836.2	-	3	1875	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	616						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)		GCCAGTAGACGAGCTTCTCAT	0.423000													26	37					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158815382	158815382	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158815382G>A	ENST00000368141.4	+	5	837	c.576G>A	c.(574-576)caG>caA	p.Q192Q		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	192					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)					CACAGAATCAGGAAACCCAGG	0.512000													19	48					0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190437583	190437583	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:190437583C>T	ENST00000261024.2	-	4	802	c.376G>A	c.(376-378)Gga>Aga	p.G126R		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	126					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)			AGAACCCATCCATGGTACATG	0.388000													28	28					0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33454896	33454896	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:33454896G>A	ENST00000256261.4	-	2	655	c.138C>T	c.(136-138)ttC>ttT	p.F46F	DUSP26_ENST00000523956.1_Silent_p.F46F	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	46						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GCTCCAACTCGAAGACATTGA	0.567000													22	41					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103310937	103310937	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:103310937C>T	ENST00000233969.2	+	6	1632	c.1490C>T	c.(1489-1491)gCt>gTt	p.A497V	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	497						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						AAACAACAAGCTGTCAGTGAA	0.348000													15	26					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													4	19					0	0	1	0	0
NUP88	4927	broad.mit.edu	37	17	5308430	5308430	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:5308430C>T	ENST00000573584.1	-	6	1500	c.991G>A	c.(991-993)Gga>Aga	p.G331R		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	331					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TACAGCATTCCTGATTCAGTA	0.483000													9	35					0	0	1	0	0
POR	5447	broad.mit.edu	37	7	75608800	75608800	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:75608800A>T	ENST00000394893.1	+	4	289	c.269A>T	c.(268-270)cAg>cTg	p.Q90L	POR_ENST00000475509.1_3'UTR|POR_ENST00000461988.1_Missense_Mutation_p.Q90L|POR_ENST00000419840.1_5'UTR			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	87	Flavodoxin-like.				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	TACGGCTCCCAGACGGGGACT	0.617000													5	16					0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19646650	19646650	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:19646650C>T	ENST00000457500.2	-	2	618	c.289G>A	c.(289-291)Gag>Aag	p.E97K	ALDH3A1_ENST00000444455.1_Missense_Mutation_p.E97K|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.E24K|ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.E97K|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.E97K	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	97					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	ATGTAGAGCTCGTCCTGCTGA	0.617000													35	56					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054207	29054207	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:29054207C>T	ENST00000377173.2	-	1	883	c.819G>A	c.(817-819)atG>atA	p.M273I		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						AGAGGGAAACCATCTTTCCCC	0.443000													19	66					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40044126	40044126	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:40044126G>A	ENST00000324616.5	+	7	810	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	C12orf40_ENST00000398716.1_Missense_Mutation_p.R142Q|C12orf40_ENST00000405531.3_Missense_Mutation_p.R219Q	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	219								p.R219Q(1)		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						AAAACTACACGATTTGGGACA	0.308000													13	17					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2577881	2577881	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:2577881G>A	ENST00000340611.4	-	14	2544	c.2288C>T	c.(2287-2289)cCc>cTc	p.P763L		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	763					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GTCCCCTGGGGGCTGGGCCTG	0.706000													13	24					0	0	1	0	0
TRBV6-4	28603	broad.mit.edu	37	7	142250978	142250978	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:142250978G>A	ENST00000390360.3	-	0	89																											GTGCCTGGGTGATCCCAGCAG	0.522000													29	44					0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150802450	150802450	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:150802450G>A	ENST00000358595.5	-	11	1162	c.962C>T	c.(961-963)tCc>tTc	p.S321F	ARNT_ENST00000515192.1_Intron|ARNT_ENST00000505755.1_Missense_Mutation_p.S306F|ARNT_ENST00000354396.2_Missense_Mutation_p.S321F	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	321					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	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;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATCTGGGAGGGAAACACCTTC	0.438000			T	ETV6	AML								28	23					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701089	192701089	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:192701089G>A	ENST00000304141.4	-	2	1167	c.838C>T	c.(838-840)Cag>Tag	p.Q280*		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	280						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GATATTTTCTGGTGATTTGAC	0.458000													96	142					0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25222160	25222160	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:25222160G>A	ENST00000444203.2	+	5	1455	c.416G>A	c.(415-417)gGg>gAg	p.G139E	SNRPN_ENST00000346403.6_Missense_Mutation_p.G135E|SNRPN_ENST00000390687.4_Missense_Mutation_p.G135E|SNRPN_ENST00000400098.1_Missense_Mutation_p.G135E|SNRPN_ENST00000400100.1_Missense_Mutation_p.G135E|SNRPN_ENST00000577565.1_Missense_Mutation_p.G135E|SNRPN_ENST00000400097.1_Missense_Mutation_p.G135E|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000554227.2_Missense_Mutation_p.G139E			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	135					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CGAGGAGTTGGGGGACCATCC	0.562000									Prader-Willi syndrome				13	33					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78868242	78868242	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:78868242C>T	ENST00000286627.5	-	9	2172	c.1220G>A	c.(1219-1221)aGa>aAa	p.R407K	KCNMA1_ENST00000406533.3_Missense_Mutation_p.R407K|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R407K|KCNMA1_ENST00000286628.8_Missense_Mutation_p.R407K|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R407K|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R407K|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R407K|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R407K	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	407					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)	TACTTACTTTCTTCCACTAAC	0.438000													42	37					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920414	4920414	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:4920414G>A	ENST00000433855.1	+	1	2073	c.1207G>A	c.(1207-1209)Gat>Aat	p.D403N	KCNA6_ENST00000280684.3_Missense_Mutation_p.D403N	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	403						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						TGACGATGACGATTCGCTTTT	0.572000										HNSCC(72;0.22)			52	63					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271740	59271740	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:59271740G>A	ENST00000313253.1	+	1	692	c.692G>A	c.(691-693)gGg>gAg	p.G231E		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	231					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						CAGGCAGGAGGGGGCAGGAGG	0.537000													79	130					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52821115	52821115	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:52821115G>A	ENST00000273283.2	+	14	1912	c.1888_splice	c.e14+1	p.D630_splice	ITIH1_ENST00000542827.1_Intron|ITIH1_ENST00000540715.1_Splice_Site_p.D488_splice|ITIH1_ENST00000537050.1_Splice_Site_p.D342_splice	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	630	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GCCCTCAGAGGGTATAGGCTG	0.567000													24	53					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461738	50461738	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:50461738G>A	ENST00000447370.2	-	8	1543	c.1453C>T	c.(1453-1455)Ctg>Ttg	p.L485L	SIGLEC11_ENST00000426971.2_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	485					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)		CACCAGCGCAGAGAGGGGGCC	0.706000													9	17					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848886	54848886	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:54848886G>A	ENST00000291759.4	-	5	793	c.737C>T	c.(736-738)tCt>tTt	p.S246F		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	246	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GCCGACATCAGAGCCACACTG	0.652000													22	22					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67912304	67912304	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:67912304C>T	ENST00000358933.5	+	9	1285	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	349					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			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)		CGGCCCCTCTCCTGCCTCCTG	0.617000													65	85					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73161499	73161499	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:73161499G>A	ENST00000286657.4	-	19	2631	c.2595C>T	c.(2593-2595)ttC>ttT	p.F865F		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	865	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)			TAGTGTACTGGAAACCTGGAA	0.353000													45	39					0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159805039	159805039	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:159805039G>A	ENST00000289707.5	+	5	996	c.847G>A	c.(847-849)Gat>Aat	p.D283N	SLAMF8_ENST00000368104.4_Missense_Mutation_p.D174N|C1orf204_ENST00000368102.1_3'UTR|SLAMF8_ENST00000471286.1_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	283						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CCTTGTGCAGGATCTGCCATA	0.493000													27	50					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79679689	79679689	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:79679689G>A	ENST00000261205.4	+	5	946	c.289G>A	c.(289-291)Gga>Aga	p.G97R	SYT1_ENST00000457153.2_Missense_Mutation_p.G97R|SYT1_ENST00000393240.3_Missense_Mutation_p.G97R|SYT1_ENST00000552744.1_Missense_Mutation_p.G97R	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	97					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						AAAGGAAAAAGGAGGGAAGAA	0.343000													26	36					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52497298	52497298	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:52497298C>T	ENST00000261839.7	-	38	4745	c.4584G>A	c.(4582-4584)ctG>ctA	p.L1528L	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1528	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)		CTGTGGGCTTCAGGCCGGAAA	0.597000													36	50					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535179	96535179	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:96535179G>A	ENST00000371321.3	+	3	446	c.364G>A	c.(364-366)Gag>Aag	p.E122K	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	122			E -> A (in dbSNP:rs17885179).		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)	GAGATGGAAGGAGATCCGGCG	0.527000													57	65					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154672601	154672601	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:154672601G>A	ENST00000404039.1	+	21	2477	c.1890G>A	c.(1888-1890)acG>acA	p.T630T	DPP6_ENST00000377770.3_Silent_p.T694T|DPP6_ENST00000332007.3_Silent_p.T632T|DPP6_ENST00000427557.1_Silent_p.T587T	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	694					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)			CTCACAGGACGATGCTGAAGG	0.562000													23	35					0	0	1	0	0
SLC41A2	84102	broad.mit.edu	37	12	105282888	105282888	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:105282888C>T	ENST00000258538.3	-	4	930	c.803G>A	c.(802-804)gGa>gAa	p.G268E		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	268						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						GTAATATTTTCCTTCTGGAAT	0.383000													35	44					0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	312218	312218	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:312218C>T	ENST00000399932.3	+	7	1286	c.835C>T	c.(835-837)Ccc>Tcc	p.P279S	ITFG3_ENST00000442458.2_Missense_Mutation_p.P279S|ITFG3_ENST00000450082.2_Missense_Mutation_p.P279S|ITFG3_ENST00000301678.3_Missense_Mutation_p.P279S|ITFG3_ENST00000600536.1_Missense_Mutation_p.P279S|ITFG3_ENST00000301679.2_Missense_Mutation_p.P279S			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	279						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)				CATCCTCTTTCCCTGCGGTAC	0.617000													33	10					0	0	1	0	0
MT3	4504	broad.mit.edu	37	16	56624826	56624826	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:56624826G>A	ENST00000200691.4	+	3	395	c.172G>A	c.(172-174)Gag>Aag	p.E58K	MT3_ENST00000561640.1_Missense_Mutation_p.E103K|MT3_ENST00000566576.1_3'UTR|MT3_ENST00000565838.1_Missense_Mutation_p.E71K	NM_005954.2	NP_005945.1	P25713	MT3_HUMAN	metallothionein 3	58	Alpha.				cell proliferation|cellular metal ion homeostasis|removal of superoxide radicals|response to hypoxia	synaptic vesicle	antioxidant activity|copper ion binding|zinc ion binding			central_nervous_system(1)|large_intestine(1)	2						AGAGGCAGCTGAGGCAGAAGC	0.592000													9	20					0	0	1	0	0
LIPN	643418	broad.mit.edu	37	10	90537838	90537838	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:90537838C>T	ENST00000404459.1	+	9	1036	c.1036C>T	c.(1036-1038)Ctc>Ttc	p.L346F		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	346					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)		ACATGATGTCCTCGTAACACC	0.473000													24	49					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53617255	53617255	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:53617255C>T	ENST00000219022.2	+	4	664	c.586C>T	c.(586-588)Ctc>Ttc	p.L196F		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	196					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)		AAATATGACTCTCTTGGTAGA	0.388000													37	46					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101552	81101552	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:81101552A>T	ENST00000228641.3	+	1	276	c.54A>T	c.(52-54)gaA>gaT	p.E18D		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	18					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TGGATGGGGAAAATGTTACTC	0.507000													41	59					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429240	48429240	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:48429240C>T	ENST00000224605.2	-	2	911	c.646G>A	c.(646-648)Gat>Aat	p.D216N		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	216					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						AGCTCGCCATCCCGGCGGGCC	0.711000													13	10					0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681404	44681404	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:44681404G>A	ENST00000381176.4	-	4	635	c.503C>T	c.(502-504)cCc>cTc	p.P168L		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	168						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				CGGGCCTGGGGGAGGCTGCGG	0.697000													37	8					0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100488959	100488959	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:100488959C>T	ENST00000302913.4	-	4	1692	c.1553_splice	c.e4-1	p.G518_splice	ACHE_ENST00000419336.2_Splice_Site_p.G430_splice|ACHE_ENST00000411582.1_Splice_Site_p.G518_splice|ACHE_ENST00000241069.5_Splice_Site_p.G518_splice|ACHE_ENST00000412389.1_Splice_Site_p.G518_splice|ACHE_ENST00000428317.1_Splice_Site_p.G518_splice	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	518					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)	CATTGGGATCCCTGCGGAAGG	0.677000													20	22					0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108973025	108973025	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:108973025C>T	ENST00000276659.5	-	4	924	c.304G>A	c.(304-306)Gat>Aat	p.D102N	RSPO2_ENST00000378439.2_Missense_Mutation_p.D39N|RSPO2_ENST00000517939.1_Missense_Mutation_p.D35N|RSPO2_ENST00000517781.1_Missense_Mutation_p.D39N	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	102					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			AAGCAAGAATCACAGTTTTCT	0.303000													15	24					0	0	1	0	0
GALR2	8811	broad.mit.edu	37	17	74071051	74071051	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:74071051C>T	ENST00000329003.3	+	1	177	c.87C>T	c.(85-87)ccC>ccT	p.P29P		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	29					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						TCATCGTGCCCCTGCTCTTCG	0.726000													11	9					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61377522	61377522	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:61377522C>T	ENST00000544088.1	+	0	157				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_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)				TTCTTTTCTTCGCTGAGTCTG	0.428000													39	30					0	0	1	0	0
MCCC2	64087	broad.mit.edu	37	5	70948563	70948563	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:70948563C>T	ENST00000340941.6	+	16	1685	c.1556C>T	c.(1555-1557)cCt>cTt	p.P519L	MCCC2_ENST00000323375.8_Missense_Mutation_p.P481L	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	519	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GAAGGAAACCCTTACTATTCC	0.468000													12	22					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110397839	110397839	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:110397839G>A	ENST00000378402.5	+	6	653	c.549G>A	c.(547-549)ggG>ggA	p.G183G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	183	IPT/TIG 2.				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)			GCTCAAATGGGAAAAATGTTA	0.299000										HNSCC(38;0.096)			14	23					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726638	32726638	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:32726638G>A	ENST00000435145.2	-	3	696	c.635C>T	c.(634-636)aCc>aTc	p.T212I	HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.T212I|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.T212I			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	212					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						CCACTCCACGGTGATGGGGCT	0.572000													21	58					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	118975793	118975793	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:118975793A>G	ENST00000296499.5	+	2	1131	c.728A>G	c.(727-729)aAc>aGc	p.N243S	NDST3_ENST00000433996.2_Missense_Mutation_p.N243S	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	243	Heparan sulfate N-deacetylase 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						ACCCCAGAAAACCTTTCTCCT	0.388000													87	93					0	0	1	0	0
AGMAT	79814	broad.mit.edu	37	1	15906613	15906613	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:15906613G>A	ENST00000375826.3	-	3	642	c.500C>T	c.(499-501)cCc>cTc	p.P167L	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	167					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCAATATGGGATATGTGAT	0.373000													34	16					0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44470395	44470395	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:44470395C>T	ENST00000251269.5	+	6	1069	c.741C>T	c.(739-741)gtC>gtT	p.V247V	ZNF221_ENST00000587682.1_Silent_p.V247V|ZNF221_ENST00000592350.1_Silent_p.V247V	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	247					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)				ATCAGAGAGTCCATACTGGAG	0.403000													115	146					0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2594114	2594114	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:2594114C>T	ENST00000155840.5	+	6	927	c.819C>T	c.(817-819)ctC>ctT	p.L273L	KCNQ1_ENST00000335475.5_Silent_p.L146L	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	273			L -> F (in LQT1; functional channel with reduced macroscopic conductance (homomultimers); alteration of normal KVLQT1 function (mut/wt homomultimers)).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TCCTGGGCCTCATCTTCTCCT	0.612000													15	20					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761854	96761854	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:96761854G>A	ENST00000295266.4	+	1	616	c.553G>A	c.(553-555)Gat>Aat	p.D185N		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	185					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)	TAAAGGAAACGATGAGATCTG	0.483000													33	50					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168838894	168838894	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:168838894G>A	ENST00000464456.1	-	6	1718	c.518C>T	c.(517-519)tCg>tTg	p.S173L	MECOM_ENST00000433243.2_Missense_Mutation_p.S174L|MECOM_ENST00000468789.1_Missense_Mutation_p.S173L|MECOM_ENST00000264674.3_Missense_Mutation_p.S238L|MECOM_ENST00000494292.1_Missense_Mutation_p.S361L|MECOM_ENST00000460814.1_Missense_Mutation_p.S173L|MECOM_ENST00000472280.1_Missense_Mutation_p.S174L|MECOM_ENST00000392736.3_Missense_Mutation_p.S173L	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						TTTGAGGCCCGACGAAGTGGC	0.552000													28	31					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801482	140801482	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140801482C>T	ENST00000398587.2	+	1	721	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.R230C|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_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)			AGTTCCCATTCGTGTGGTGGT	0.537000													40	55					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74011410	74011410	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:74011410C>T	ENST00000301607.3	-	16	2179	c.1926G>A	c.(1924-1926)caG>caA	p.Q642Q	EVPL_ENST00000586740.1_Silent_p.Q664Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	642	Globular 1.				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						TGTCCGCATCCTGGATCTGCC	0.687000													9	6					0	0	1	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170204	20170204	+	RNA	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:20170204A>G	ENST00000338912.5	-	0	67																											AGACTGCATCAGCTGTACCTG	0.557000													51	61					0	0	1	0	0
TRGV9	6983	broad.mit.edu	37	7	38356925	38356925	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:38356925C>T	ENST00000444775.2	-	0	1427																											GTGACCTGCACCATATACACA	0.378000													22	31					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639925	3639925	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:3639925G>A	ENST00000294008.3	-	12	4354	c.3714C>T	c.(3712-3714)ttC>ttT	p.F1238F		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1238	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CACGGTCACAGAACAGCCAGG	0.667000								Direct reversal of damage					26	48					0	0	1	0	0
NUPL2	11097	broad.mit.edu	37	7	23239997	23239997	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:23239997C>T	ENST00000258742.5	+	7	1164	c.905C>T	c.(904-906)tCa>tTa	p.S302L		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	302	Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCATCATTTTCATTCAAAAGC	0.517000													22	23					0	0	1	0	0
HRH4	59340	broad.mit.edu	37	18	22048792	22048792	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:22048792C>T	ENST00000256906.4	+	2	334	c.234C>T	c.(232-234)ttC>ttT	p.F78F	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	78						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	ACACGCTGTTCGAATGGGATT	0.398000													24	78					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71727516	71727516	+	Silent	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:71727516A>G	ENST00000393695.3	-	14	1511	c.1180T>C	c.(1180-1182)Ttg>Ctg	p.L394L	NUMA1_ENST00000351960.6_Silent_p.L394L|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Silent_p.L394L	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	394					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AGCTGGGACAAGTGTTCTTCC	0.517000			T	RARA	APL								41	57					0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80549044	80549044	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:80549044G>A	ENST00000220876.7	+	2	409	c.27G>A	c.(25-27)aaG>aaA	p.K9K	STMN2_ENST00000518491.1_5'UTR|STMN2_ENST00000518111.1_Silent_p.K9K	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	9	Membrane attachment (Potential).				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CAGCCTACAAGGAAAAAATGA	0.368000													23	32					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167805697	167805697	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:167805697G>A	ENST00000367848.1	-	23	3380	c.2883C>T	c.(2881-2883)atC>atT	p.I961I	ADCY10_ENST00000485964.1_Intron|ADCY10_ENST00000545172.1_Silent_p.I900I|ADCY10_ENST00000367851.4_Silent_p.I1053I			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1053					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						ATTCCAGAGGGATAATGTCTT	0.383000													61	51					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76482090	76482090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:76482090C>T	ENST00000389840.5	-	46	7309	c.7185G>A	c.(7183-7185)tgG>tgA	p.W2395*	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Nonsense_Mutation_p.W2404*|RP11-559N14.5_ENST00000585969.1_RNA					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)			CTTTATCTGTCCAGGGCAGGA	0.493000													31	26					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769295	247769295	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:247769295G>A	ENST00000320002.2	+	1	440	c.408G>A	c.(406-408)atG>atA	p.M136I	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	136					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)			TAGTCATCATGAACCCACGGC	0.502000													132	103					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85447362	85447362	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:85447362C>T	ENST00000394573.1	+	7	698	c.496C>T	c.(496-498)Ctg>Ttg	p.L166L	SLC28A1_ENST00000286749.3_Silent_p.L166L|SLC28A1_ENST00000537216.1_Silent_p.L166L|SLC28A1_ENST00000538177.1_Silent_p.L166L|SLC28A1_ENST00000537703.1_Silent_p.L88L|SLC28A1_ENST00000537624.1_Silent_p.L166L	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	166					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)			GGGCCTGGTCCTGTGGCTGTC	0.582000													27	44					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125110103	125110103	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:125110103C>T	ENST00000522917.1	+	37	5068	c.4862C>T	c.(4861-4863)tCa>tTa	p.S1621L	FER1L6_ENST00000399018.1_Missense_Mutation_p.S1621L|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1621	C2 6.					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)			GGCCAAAAATCAAGTGATATT	0.398000													23	44					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179614899	179614899	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179614899C>T	ENST00000360870.5	-	46	12450	c.12228G>A	c.(12226-12228)gaG>gaA	p.E4076E	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3465							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)			TTGTTTGGCCCTCTTGACTCA	0.438000													31	58					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49831529	49831529	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:49831529G>A	ENST00000527477.1	+	0	1754																											GGAAAGGGAAGAATCAGAATG	0.458000													34	42					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131646724	131646724	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:131646724C>T	ENST00000368648.3	-	11	1105	c.1033G>A	c.(1033-1035)Gat>Aat	p.D345N	EBF3_ENST00000355311.5_Missense_Mutation_p.D354N	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	354	IPT/TIG.				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)		AAGCCGTAATCTATGGTTGGT	0.428000													48	67					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78209377	78209377	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:78209377C>T	ENST00000565869.1	+	0	111																											GGGAGAGCCACGAGGCTCAAC	0.592000													9	9					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113326251	113326251	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:113326251G>A	ENST00000297405.5	-	49	7824	c.7580C>T	c.(7579-7581)tCc>tTc	p.S2527F	CSMD3_ENST00000352409.3_Missense_Mutation_p.S2457F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2487F|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2423F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2527	CUB 14.					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						CCCACTGAGGGAAATAAGCAC	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			31	54					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46860045	46860045	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:46860045G>A	ENST00000262738.3	-	2	3741	c.3742C>T	c.(3742-3744)Cag>Tag	p.Q1248*	CELSR1_ENST00000395964.1_Nonsense_Mutation_p.Q1248*	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1248					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)		GTGTCGTTCTGGACGTTGAAG	0.652000													3	27					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27284429	27284429	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:27284429G>A	ENST00000317338.12	-	12	2859	c.2431C>T	c.(2431-2433)Ctc>Ttc	p.L811F	SEZ6_ENST00000360295.9_Missense_Mutation_p.L811F|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.L811F|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	811	Sushi 4.					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)			TGGCAGGTGAGGATGGAGCTG	0.577000													69	87					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962910	69962910	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:69962910C>T	ENST00000305231.7	+	1	718	c.672C>T	c.(670-672)ttC>ttT	p.F224F	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Silent_p.F224F	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	224					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACTTTTGGTTCGAAATATTTG	0.323000													40	50					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50966505	50966505	+	Missense_Mutation	SNP	C	C	T	rs141422972		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:50966505C>T	ENST00000374103.4	-	2	219	c.134G>A	c.(133-135)gGt>gAt	p.G45D	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Missense_Mutation_p.G45D	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	45	Poly-Gly.				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						GCCGCCTCCACCTTTGCTGCT	0.642000													32	46					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94674448	94674448	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:94674448G>A	ENST00000260526.6	-	5	632	c.450C>T	c.(448-450)ttC>ttT	p.F150F	ARHGAP29_ENST00000370217.3_Silent_p.F150F	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	150					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			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)		CTCCCATAAGGAAGTTTGTAA	0.333000													68	57					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37951777	37951777	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:37951777A>T	ENST00000436072.2	-	4	1112	c.735T>A	c.(733-735)tgT>tgA	p.C245*	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	245	NTR.				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						GGATGTGTGGACACTGGCAAG	0.483000													16	92					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164741506	164741506	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:164741506G>A	ENST00000264382.3	-	26	3013	c.2951C>T	c.(2950-2952)tCa>tTa	p.S984L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	984	Isomaltase.				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)	TGAGTTGACTGAATAAGAGTT	0.403000										HNSCC(35;0.089)			33	41					0	0	1	0	0
TRIM73	375593	broad.mit.edu	37	7	75028290	75028290	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:75028290G>A	ENST00000323819.3	+	2	273	c.73G>A	c.(73-75)Gag>Aag	p.E25K	TRIM73_ENST00000450434.1_Intron|TRIM73_ENST00000463766.1_3'UTR|TRIM73_ENST00000430211.1_Missense_Mutation_p.E25K|TRIM73_ENST00000437796.1_Missense_Mutation_p.E25K|TRIM73_ENST00000447409.2_Missense_Mutation_p.E25K	NM_198924.2	NP_944606.2	Q86UV6	TRI74_HUMAN	tripartite motif containing 73	25						intracellular	zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GGTCTTCAAGGAGTCCCTAAT	0.612000													4	54					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111985166	111985166	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:111985166C>T	ENST00000305815.5	-	8	1049	c.797G>A	c.(796-798)gGa>gAa	p.G266E	SLC9C1_ENST00000487372.1_Missense_Mutation_p.G266E	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	266					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										AGTAAATATTCCTGACATTCC	0.299000													27	44					0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	348139	348139	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:348139C>T	ENST00000419235.2	+	6	378	c.300C>T	c.(298-300)atC>atT	p.I100I	DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000344450.5_Silent_p.I100I			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	100	Tyrosine-protein phosphatase.				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	p.I100M(1)		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)		CACTGGTGATCGCATACATCA	0.607000													40	131					0	0	1	0	0
TCF7	6932	broad.mit.edu	37	5	133451706	133451706	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:133451706C>T	ENST00000395029.1	+	3	618	c.423C>T	c.(421-423)ccC>ccT	p.P141P	TCF7_ENST00000520958.1_Silent_p.P26P|TCF7_ENST00000321603.6_Silent_p.P141P|TCF7_ENST00000432532.2_Silent_p.P26P|TCF7_ENST00000378564.1_Silent_p.P141P|TCF7_ENST00000518915.1_Silent_p.P26P|TCF7_ENST00000395023.1_Silent_p.P26P|TCF7_ENST00000342854.5_Silent_p.P141P|TCF7_ENST00000321584.4_Silent_p.P141P|TCF7_ENST00000378560.4_Silent_p.P26P			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	141					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCAGCACCCCCAGCCGCAGC	0.652000													6	13					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68931864	68931864	+	Silent	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:68931864A>G	ENST00000288368.4	+	3	571	c.294A>G	c.(292-294)gaA>gaG	p.E98E	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	98	DH.				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						TACACCCCGAACCTAATGCTC	0.338000													17	32					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35579897	35579897	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:35579897C>T	ENST00000453357.2	+	9	1328	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	UNC5D_ENST00000420357.1_Silent_p.F362F|UNC5D_ENST00000416672.1_Silent_p.F434F|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000404895.2_Silent_p.F429F			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	429					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)		CCTTCAACTTCAAAACAGTCC	0.552000													63	84					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56297069	56297069	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:56297069C>T	ENST00000443188.1	-	12	3734	c.3024G>A	c.(3022-3024)ttG>ttA	p.L1008L	NLRP11_ENST00000360133.3_Silent_p.L954L|NLRP11_ENST00000589093.1_Silent_p.L1008L|NLRP11_ENST00000589824.2_Silent_p.L954L|NLRP11_ENST00000592953.1_Silent_p.L909L	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	1008							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)		ACATGTAATCCAAATTAGAAT	0.388000													36	56					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117376385	117376385	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:117376385G>A	ENST00000321322.6	-	9	2027	c.2026C>T	c.(2026-2028)Ccc>Tcc	p.P676S	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P406S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	616	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			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)		ACCACACAGGGAATGTAGAGC	0.627000													6	44					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94917905	94917905	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:94917905G>A	ENST00000289495.5	+	17	3769	c.3553G>A	c.(3553-3555)Gaa>Aaa	p.E1185K	PPP1R9A_ENST00000424654.1_Intron|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E987K|PPP1R9A_ENST00000456331.2_Intron|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E987K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E1263K	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	987						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)			GGCCGTTCAGGAATGGAGTGT	0.448000										HNSCC(28;0.073)			47	47					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51115160	51115160	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:51115160G>A	ENST00000301180.5	+	26	3181	c.3147G>A	c.(3145-3147)gtG>gtA	p.V1049V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1049						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GAGATAATGTGGTGTTGCTCT	0.448000													59	88					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466836	10466836	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:10466836G>A	ENST00000382483.3	-	4	4995	c.4772C>T	c.(4771-4773)cCa>cTa	p.P1591L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1591					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)		GGCCTCCCTTGGAGGCTCCAG	0.687000													9	10					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47405374	47405374	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:47405374C>T	ENST00000285039.7	-	24	3516	c.3217G>A	c.(3217-3219)Gaa>Aaa	p.E1073K	MYO5B_ENST00000324581.6_Missense_Mutation_p.E214K	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1073					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)		TGTGAATATTCCTTCACAAGG	0.493000													41	47					0	0	1	0	0
EVL	51466	broad.mit.edu	37	14	100604201	100604201	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:100604201C>T	ENST00000544450.2	+	11	1451	c.1168C>T	c.(1168-1170)Ccg>Tcg	p.P390S	EVL_ENST00000402714.2_Intron|EVL_ENST00000392920.3_Intron			Q9UI08	EVL_HUMAN	Enah/Vasp-like	194	EVH2 block C.|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)				GTCCCCCGTCCCGTGACTAAC	0.587000													23	9					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67425032	67425032	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:67425032C>T	ENST00000382713.5	+	7	969	c.779C>T	c.(778-780)tCa>tTa	p.S260L		NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	260							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)				TTATCCAAATCAATATCTCTT	0.388000													9	148					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103748	52103748	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:52103748C>T	ENST00000361781.2	-	7	1086	c.127G>A	c.(127-129)Gat>Aat	p.D43N	SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.D43N	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	49	SAM.				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						TTTTTGAAATCCTCTTGGGTT	0.512000													24	52					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751222	162751222	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:162751222C>T	ENST00000375514.5	+	11	1458	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	SLC4A10_ENST00000446997.1_Missense_Mutation_p.R410C|SLC4A10_ENST00000535165.1_Silent_p.I380I|SLC4A10_ENST00000415876.2_Missense_Mutation_p.R380C|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R410C|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R380C|SLC4A10_ENST00000493021.1_3'UTR	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	410					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.R380C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGCTAAAGATCGTAATGACTT	0.328000													21	18					0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4543396	4543396	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:4543396G>A	ENST00000228837.2	-	3	655	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	204					angiogenesis|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	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TCCTGGGAAGGAAATGAGTGA	0.498000													43	36					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47753016	47753016	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:47753016C>T	ENST00000263773.5	-	12	1930	c.1918G>A	c.(1918-1920)Gaa>Aaa	p.E640K		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	640										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCTCTATTTTCTTGTGCTTGG	0.428000													60	67					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898081	36898081	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:36898081C>T	ENST00000301807.6	-	12	3247	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	TRANK1_ENST00000429976.2_Silent_p.T1000T|TRANK1_ENST00000428977.2_Silent_p.T450T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1000					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						CTGTGGCTGTCGTGTCATTGA	0.532000													73	127					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77663034	77663034	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:77663034C>T	ENST00000296043.6	+	5	4661	c.3708C>T	c.(3706-3708)gtC>gtT	p.V1236V		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1236					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)			CGGGCCCTGTCCATGTGAGGT	0.652000													18	9					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63417050	63417050	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:63417050G>A	ENST00000322893.7	-	7	1438	c.1170C>T	c.(1168-1170)taC>taT	p.Y390Y	KCNH5_ENST00000394964.2_Silent_p.Y332Y|KCNH5_ENST00000394968.1_Silent_p.Y332Y|KCNH5_ENST00000420622.2_Silent_p.Y390Y	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	390					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)		AAGCCAGCTGGTAGAGCCAAC	0.507000													45	8					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46574083	46574083	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:46574083T>C	ENST00000263734.3	+	2	608	c.98T>C	c.(97-99)gTg>gCg	p.V33A	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	33	Helix-loop-helix motif.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GAGACGGAGGTGTTCTATGAG	0.607000													32	42					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754532	49754532	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:49754532G>A	ENST00000304801.3	-	1	521	c.369C>T	c.(367-369)cgC>cgT	p.R123R		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	123					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)					CCACATGAAAGCGCAGGTTCT	0.512000													49	108					0	0	1	0	0
CDKL2	8999	broad.mit.edu	37	4	76523288	76523288	+	Silent	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:76523288A>G	ENST00000429927.2	-	8	1696	c.993T>C	c.(991-993)gtT>gtC	p.V331V	CDKL2_ENST00000307465.4_Silent_p.V331V	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	331					sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTCTTTCTTCAACTAAGGAAT	0.249000													13	21					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48142399	48142399	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:48142399C>T	ENST00000311303.3	-	17	2668	c.2323G>A	c.(2323-2325)Gga>Aga	p.G775R	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.G772R	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	775						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)				GTCACGGTTCCTTCCTGGGGG	0.473000													14	24					0	0	1	0	0
LOC643711	643711	broad.mit.edu	37	12	98126404	98126404	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:98126404G>A	ENST00000550548.1	-	0	366					NR_077240.1																						TCCTCCATCAGCTGCATGATC	0.488000													12	4					0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666580	167666580	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:167666580G>A	ENST00000367854.3	+	6	1050	c.719G>A	c.(718-720)aGg>aAg	p.R240K	RCSD1_ENST00000537350.1_Missense_Mutation_p.R210K	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	240	RCSD.									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)					CCTCCTCTGAGGAGGTCACCC	0.612000													37	23					0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15575055	15575055	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:15575055G>A	ENST00000343625.6	-	2	195	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	39					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CGGCCCCAGCGGAACCCTCCA	0.692000													3	6					0	0	1	0	0
LIPK	643414	broad.mit.edu	37	10	90484384	90484384	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:90484384C>T	ENST00000404190.1	+	1	84	c.84C>T	c.(82-84)aaC>aaT	p.N28N		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	28					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		ACAATGCAAACCCTGAAGCTA	0.358000													3	9					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161771939	161771939	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:161771939C>T	ENST00000367942.3	+	7	853	c.786C>T	c.(784-786)gtC>gtT	p.V262V		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	262					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			CTGGGGGAGTCACACAGCTCC	0.527000													33	103					0	0	1	0	0
TPST2	8459	broad.mit.edu	37	22	26932302	26932302	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:26932302G>A	ENST00000338754.4	-	4	1263	c.993C>T	c.(991-993)ccC>ccT	p.P331P	TPST2_ENST00000403880.1_Silent_p.P331P|TPST2_ENST00000398110.2_Silent_p.P331P	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	331					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CATAGTTGGGGGGGTTTGCAT	0.582000													10	12					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12952444	12952444	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:12952444C>T	ENST00000276297.4	-	12	3759	c.3350G>A	c.(3349-3351)gGg>gAg	p.G1117E	DLC1_ENST00000520226.1_Missense_Mutation_p.G606E|DLC1_ENST00000358919.2_Missense_Mutation_p.G680E|DLC1_ENST00000512044.2_Missense_Mutation_p.G714E|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1117	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						GGACTTGACCCCCGATTTTCT	0.517000													22	23					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88937312	88937312	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:88937312G>A	ENST00000277141.6	-	15	3247	c.823C>T	c.(823-825)Cag>Tag	p.Q275*	ZCCHC6_ENST00000375963.3_Nonsense_Mutation_p.Q986*|ZCCHC6_ENST00000375961.2_Nonsense_Mutation_p.Q986*|ZCCHC6_ENST00000375960.2_Intron			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	986					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GGTTCTAGCTGGATTCTTTTG	0.393000													43	40					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121616315	121616315	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:121616315C>T	ENST00000489711.1	+	3	662	c.274C>T	c.(274-276)Ctc>Ttc	p.L92F	SLC15A2_ENST00000295605.2_Missense_Mutation_p.L92F	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	92					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)	CTTCAGCAGCCTCTGTTATTT	0.453000													46	59					0	0	1	0	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652564	45652564	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:45652564G>A	ENST00000427229.2	+	0	2078																											TGAAGTTTTGGAAAAAGGAAC	0.358000													4	10					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153190586	153190586	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:153190586G>A	ENST00000285900.5	+	16	2865	c.2520_splice	c.e16-1	p.G841_splice	GRIA1_ENST00000340592.5_Splice_Site_p.G841_splice|GRIA1_ENST00000521843.2_Splice_Site_p.G772_splice|GRIA1_ENST00000518783.1_Splice_Site_p.G851_splice|GRIA1_ENST00000518142.1_Splice_Site_p.G761_splice|GRIA1_ENST00000448073.4_Splice_Site_p.G851_splice	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	841					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)	CCTGAAAAGGGTTTTTGTTTG	0.557000													25	47					0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37395162	37395162	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:37395162C>T	ENST00000535679.1	-	7	827	c.828G>A	c.(826-828)caG>caA	p.Q276Q	SULT6B1_ENST00000407963.1_Silent_p.Q238Q|SULT6B1_ENST00000379149.2_Silent_p.Q172Q|SULT6B1_ENST00000260637.3_Silent_p.Q238Q			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	276						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				CATCCATTTCCTGGTTCTGAA	0.388000													35	44					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58292112	58292112	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:58292112G>A	ENST00000300896.4	-	17	2085	c.1891C>T	c.(1891-1893)Cct>Tct	p.P631S	USP32_ENST00000592339.1_Missense_Mutation_p.P301S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	631					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)			CGCTTTAAAGGTGCATTCGGA	0.423000													9	64					0	0	1	0	0
ATP6V1C1	528	broad.mit.edu	37	8	104053178	104053178	+	Silent	SNP	C	C	T	rs73699556	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:104053178C>T	ENST00000395862.3	+	2	273	c.114C>T	c.(112-114)ttC>ttT	p.F38F	ATP6V1C1_ENST00000518738.1_Silent_p.F38F|ATP6V1C1_ENST00000518857.1_Intron|ATP6V1C1_ENST00000521514.1_Intron	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	38					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CTTCCAAGTTCAATATTCCTG	0.423000													48	52					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159272169	159272169	+	Missense_Mutation	SNP	G	G	A	rs142102904		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:159272169G>A	ENST00000368115.1	+	2	114	c.15G>A	c.(13-15)atG>atA	p.M5I	FCER1A_ENST00000368114.1_Missense_Mutation_p.M5I	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	5						integral to plasma membrane		p.M5I(1)		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)	CTCCTGCCATGGAATCCCCTA	0.473000													84	239					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558834	140558834	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140558834G>A	ENST00000239444.2	+	1	1464	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		407	Cadherin 4.				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)			CCTACTAACAGAGACACCACT	0.468000													66	198					0	0	1	0	0
FLOT1	10211	broad.mit.edu	37	6	30698779	30698779	+	Silent	SNP	C	C	T	rs111269471		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:30698779C>T	ENST00000376389.3	-	9	1042	c.822G>A	c.(820-822)cgG>cgA	p.R274R	FLOT1_ENST00000456573.2_Silent_p.R226R	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	274						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CCTTCTCCCGCCGGGCGATCT	0.662000													39	92					0	0	1	0	0
FNDC7	163479	broad.mit.edu	37	1	109273354	109273354	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:109273354G>A	ENST00000370017.3	+	9	1960	c.1683G>A	c.(1681-1683)gtG>gtA	p.V561V	FNDC7_ENST00000271311.2_Silent_p.V562V	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	562	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)		TAATCAACGTGAGCTGGACTA	0.448000													112	66					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32640582	32640582	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:32640582C>A	ENST00000421745.2	+	10	2357	c.2223C>A	c.(2221-2223)gaC>gaA	p.D741E		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	741					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTTGTGCTGACGGAATTCATT	0.423000													30	35					3.73148e-12	3.77522e-12	1	1	0
QRICH1	54870	broad.mit.edu	37	3	49070620	49070620	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:49070620C>T	ENST00000395443.2	-	7	2300	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	QRICH1_ENST00000357496.2_Missense_Mutation_p.E610K|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.E610K	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	610										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGCTTGCACTCCCATAGCATC	0.522000													39	34					0	0	1	0	0
AIPL1	23746	broad.mit.edu	37	17	6331746	6331746	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:6331746G>A	ENST00000381129.3	-	3	437	c.357C>T	c.(355-357)caC>caT	p.H119H	AIPL1_ENST00000570466.1_Silent_p.H97H|AIPL1_ENST00000574506.1_Silent_p.H107H|AIPL1_ENST00000576776.1_Silent_p.H119H|AIPL1_ENST00000576307.1_Silent_p.H59H|AIPL1_ENST00000575265.1_Silent_p.H119H|AIPL1_ENST00000571740.1_Silent_p.H119H|AIPL1_ENST00000250087.5_Intron	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	119	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		GCCCGCACGTGTGCACGTGCC	0.632000													17	39					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20648554	20648554	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:20648554G>A	ENST00000219151.4	-	9	1268	c.58C>T	c.(58-60)Cat>Tat	p.H20Y	ACSM1_ENST00000520010.1_Intron|ACSM1_ENST00000307493.4_Intron			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	399					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GCCTCCATATGAAACTGAAGG	0.507000													48	69					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10346787	10346787	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:10346787C>T	ENST00000255381.2	-	40	5835	c.5725G>A	c.(5725-5727)Gag>Aag	p.E1909K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1909					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						TCCTTGGCCTCCTCCAGCTCG	0.468000													54	75					0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80427429	80427429	+	Silent	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:80427429A>T	ENST00000265361.3	-	11	1671	c.1110T>A	c.(1108-1110)atT>atA	p.I370I	SEMA3C_ENST00000536800.1_Silent_p.I222I|SEMA3C_ENST00000544525.1_Silent_p.I388I|SEMA3C_ENST00000419255.2_Silent_p.I370I	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	370	Sema.				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						GAGGATATGGAATTCTGCCCT	0.388000													21	27					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242396195	242396195	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:242396195C>T	ENST00000264042.3	+	14	1615	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	FARP2_ENST00000373287.4_Missense_Mutation_p.S482F|FARP2_ENST00000545004.1_Missense_Mutation_p.S482F	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	482	Pro-rich.				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)		CCTTCTCCCTCCAGCCGGAAG	0.602000													51	74					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50549870	50549870	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:50549870C>T	ENST00000595661.1	+	6	2665	c.2170C>T	c.(2170-2172)Cac>Tac	p.H724Y	ZNF473_ENST00000391821.2_Missense_Mutation_p.H724Y|ZNF473_ENST00000270617.3_Missense_Mutation_p.H724Y|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.H712Y			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	724					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCAGAGAATTCACTCAGGTGA	0.512000											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	54					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214209138	214209138	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:214209138C>T	ENST00000366958.4	+	5	2783	c.2175C>T	c.(2173-2175)ttC>ttT	p.F725F	PROX1_ENST00000435016.1_Silent_p.F725F|PROX1_ENST00000498508.2_Silent_p.F725F|PROX1_ENST00000261454.4_Silent_p.F725F	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	725	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTGAGATTTTCAAATCCCCGA	0.423000													51	37					0	0	1	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140798393	140798393	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140798393G>A	ENST00000398594.2	+	1	967	c.967G>A	c.(967-969)Gac>Aac	p.D323N	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGCAAAAGACCGAGGATC	0.398000													18	28					0	0	1	0	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81443027	81443027	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:81443027G>A	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GGCCAGGCAAGGAGGAGCCCC	0.622000													14	22					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899318	133899318	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:133899318C>T	ENST00000220616.4	+	9	1741	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F	TG_ENST00000377869.1_Silent_p.F567F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	567					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)		CCCTCAAATTCCTTGCTTCTC	0.443000													40	59					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17122432	17122432	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:17122432C>T	ENST00000443236.1	-	4	575	c.544G>A	c.(544-546)Gac>Aac	p.D182N	CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Missense_Mutation_p.D135N	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	135						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						ACAGGCTTGTCCGTCTGGATG	0.647000													35	80					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133961154	133961154	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	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													47	61					0	0	1	0	0
AKAP5	9495	broad.mit.edu	37	14	64935557	64935557	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:64935557G>A	ENST00000320636.5	+	1	1733	c.445G>A	c.(445-447)Gac>Aac	p.D149N	AKAP5_ENST00000394718.3_Missense_Mutation_p.D149N|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron			P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	149	Essential to the intracellular anchoring function (By similarity).				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		AGAAGACTCAGACTGCAGCAT	0.388000													66	22					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762175	130762175	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:130762175C>T	ENST00000392429.1	+	2	2986	c.608C>T	c.(607-609)tCg>tTg	p.S203L	TMEM200A_ENST00000296978.3_Missense_Mutation_p.S203L|TMEM200A_ENST00000545622.1_Missense_Mutation_p.S203L	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	203						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)		TCCTGTGCCTCGAGATTGGCA	0.463000													25	40					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117198958	117198958	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:117198958G>A	ENST00000332958.2	+	2	239		c.e2-1			NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6						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						CTGGCAATCAGAAATGCACTT	0.408000													22	26					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47898405	47898405	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:47898405C>T	ENST00000289672.2	-	27	4278	c.4228G>A	c.(4228-4230)Gtg>Atg	p.V1410M		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1410	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						TTGTCAATCACAAATGGCCCC	0.493000													36	58					0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62854903	62854903	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:62854903G>A	ENST00000584306.1	-	12	5333	c.4803C>T	c.(4801-4803)ctC>ctT	p.L1601L	LRRC37A3_ENST00000334962.5_Silent_p.L578L|LRRC37A3_ENST00000319651.5_Silent_p.L1601L|LRRC37A3_ENST00000339474.5_Silent_p.L719L|LRRC37A3_ENST00000400877.3_Silent_p.L639L	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1601						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTACCTCAATGAGGCAGAGAA	0.383000													21	43					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120243	94120243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:94120243G>A	ENST00000369303.4	-	3	992	c.808C>T	c.(808-810)Cag>Tag	p.Q270*	EPHA7_ENST00000369297.1_Nonsense_Mutation_p.Q270*	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	270	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)		CCTTTTTGCTGGTAGCCTGCT	0.413000													42	46					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870209	51870209	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:51870209G>A	ENST00000371497.5	+	2	1099	c.212G>A	c.(211-213)gGa>gAa	p.G71E	TSHZ2_ENST00000603338.2_Missense_Mutation_p.G68E|TSHZ2_ENST00000329613.6_Missense_Mutation_p.G68E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	71					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)			AACTCTCCAGGAAGTCATTTG	0.547000													23	40					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325258	9325258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9325258G>A	ENST00000308682.2	-	1	284	c.256C>T	c.(256-258)Cag>Tag	p.Q86*		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	86					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						CTCCGTGCCTGGATGCTCACT	0.502000													38	65					0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7022029	7022029	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:7022029C>T	ENST00000007969.8	+	7	1114	c.894C>T	c.(892-894)taC>taT	p.Y298Y	LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000436789.1_Intron|LRRC23_ENST00000323702.5_Intron|LRRC23_ENST00000443597.2_Silent_p.Y298Y	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	298	LRRCT.									NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						AGATGCCATACCTTGAACGCC	0.572000													74	106					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396928	197396928	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:197396928G>A	ENST00000367397.1	+	3	1474	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.E713K|CRB1_ENST00000535699.1_Missense_Mutation_p.E756K|CRB1_ENST00000544212.1_Missense_Mutation_p.E306K|CRB1_ENST00000367400.3_Missense_Mutation_p.E825K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	825	EGF-like 5; 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						GTGGAAAATCGAAAAGGGAGA	0.368000													64	38					0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132859674	132859674	+	RNA	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:132859674A>T	ENST00000434551.1	+	0	246					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TCTTGGTGGGAGTCACTGTGA	0.463000													5	74					0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687515	158687515	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158687515G>A	ENST00000368146.1	-	1	438	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	OR6K3_ENST00000368145.1_Missense_Mutation_p.R131C			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	147					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)					ATTTGATAGCGAAGAGGGTTG	0.493000													100	77					0	0	1	0	0
RMDN2	151393	broad.mit.edu	37	2	38224644	38224644	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:38224644A>C	ENST00000407257.1	+	8	1712	c.1565A>C	c.(1564-1566)cAc>cCc	p.H522P	RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Missense_Mutation_p.H344P|RMDN2_ENST00000354545.2_Missense_Mutation_p.H344P|RMDN2_ENST00000417700.2_Missense_Mutation_p.H199P|RMDN2_ENST00000234195.3_Missense_Mutation_p.H522P					regulator of microtubule dynamics 2																		GAAGCTTTACACAATTTCCTT	0.383000													34	44					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101862792	101862792	+	Missense_Mutation	SNP	A	A	G	rs45624543		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:101862792A>G	ENST00000348070.1	-	19	2394	c.2395T>C	c.(2395-2397)Tgc>Cgc	p.C799R	PCSK6_ENST00000358417.3_Missense_Mutation_p.C786R|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	800	CRM (Cys-rich motif).				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)			CTTGGGTGGCATTTAAGGCAA	0.463000													12	11					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10447315	10447315	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:10447315C>T	ENST00000245503.5	-	7	936	c.552G>A	c.(550-552)ggG>ggA	p.G184G	MYH2_ENST00000532183.1_Silent_p.G184G|MYH2_ENST00000397183.2_Silent_p.G184G|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	184	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						TCACAGTCTTCCCTGCACCAG	0.408000													40	52					0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62569098	62569098	+	Silent	SNP	G	G	A	rs140528299		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:62569098G>A	ENST00000531709.2	-	7	758	c.645C>T	c.(643-645)atC>atT	p.I215I	NXF1_ENST00000294172.2_Silent_p.I215I|NXF1_ENST00000532297.1_Silent_p.I215I|NXF1_ENST00000439713.2_Silent_p.I215I|NXF1_ENST00000531131.1_5'UTR	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	215	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	p.I215I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTTTGCTCATGATCAGCTAGA	0.498000													41	67					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176517766	176517766	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:176517766G>A	ENST00000292408.4	+	4	621	c.376G>A	c.(376-378)Gat>Aat	p.D126N	FGFR4_ENST00000502906.1_Missense_Mutation_p.D126N|FGFR4_ENST00000393648.2_Missense_Mutation_p.D126N|FGFR4_ENST00000292410.3_Missense_Mutation_p.D126N|FGFR4_ENST00000393637.1_Missense_Mutation_p.D126N	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	126					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)	CTCCAGCAACGATGATGAGGA	0.577000										TSP Lung(9;0.080)			20	41					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29486111	29486111	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:29486111G>A	ENST00000358273.4	+	3	671	c.288_splice	c.e3+1	p.G96_splice	NF1_ENST00000431387.4_Splice_Site_p.G96_splice|NF1_ENST00000356175.3_Splice_Site_p.G96_splice	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	96					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)	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)		GTCTTGCTGGGGTAAGTAAAT	0.353000			"""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)			16	31					0	0	1	0	0
TRDV1	28518	broad.mit.edu	37	14	22564730	22564730	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:22564730C>T	ENST00000390452.2	+	0	199																											CAAGCAACTTCCCAGCAAAGA	0.428000													58	60					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746611	158746611	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158746611C>T	ENST00000339258.1	-	1	814	c.815G>A	c.(814-816)cGa>cAa	p.R272Q		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	272					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)					AGCAAGTGTTCGGTCAAGGGT	0.433000													58	118					0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538479	152538479	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:152538479T>C	ENST00000368789.1	-	2	261	c.206A>G	c.(205-207)aAc>aGc	p.N69S		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	69					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)		GTCACAGGAGTTGGACCTCTG	0.672000													111	68					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53643921	53643921	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:53643921G>A	ENST00000452676.2	-	5	2589	c.2163C>T	c.(2161-2163)gtC>gtT	p.V721V	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.V720V|ZNF347_ENST00000601469.2_Silent_p.V721V	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	720					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GGCTTGAACGGACACTAAAGG	0.428000													93	134					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53240568	53240568	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:53240568C>T	ENST00000359499.4	-	3	321	c.310G>A	c.(310-312)Gac>Aac	p.D104N	KRT78_ENST00000304620.4_Missense_Mutation_p.D214N			Q8N1N4	K2C78_HUMAN	keratin 78	214	Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						ACCACAAAGTCGTTCTCAAGT	0.567000													14	17					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39845455	39845455	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:39845455C>T	ENST00000502986.2	+	7	796	c.554C>T	c.(553-555)gCt>gTt	p.A185V	IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000389060.4_Missense_Mutation_p.A172V	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	172					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						CTGGTGACTGCTTTGGTAGAG	0.463000													5	8					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41580682	41580682	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:41580682G>A	ENST00000396942.1	-	9	953	c.870C>T	c.(868-870)atC>atT	p.I290I	ANK1_ENST00000396945.1_Silent_p.I290I|ANK1_ENST00000347528.4_Silent_p.I290I|ANK1_ENST00000379758.2_Silent_p.I290I|ANK1_ENST00000265709.8_Silent_p.I323I|ANK1_ENST00000289734.7_Silent_p.I290I|ANK1_ENST00000352337.4_Silent_p.I290I			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	290	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)			GGTCCAGCAGGATCTCTGAGA	0.517000													27	49					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216073536	216073536	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:216073536G>A	ENST00000366943.2	-	40	7861	c.7475C>T	c.(7474-7476)tCg>tTg	p.S2492L	USH2A_ENST00000307340.3_Missense_Mutation_p.S2492L|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2492	Fibronectin type-III 11.				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)		ATAGCTTAACGATGCAGAAGG	0.368000										HNSCC(13;0.011)			49	41					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41832248	41832248	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:41832248G>A	ENST00000396930.3	-	9	1999	c.1456C>T	c.(1456-1458)Cgt>Tgt	p.R486C	KAT6A_ENST00000485568.1_Missense_Mutation_p.R486C|KAT6A_ENST00000406337.1_Missense_Mutation_p.R486C|KAT6A_ENST00000265713.2_Missense_Mutation_p.R486C	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	486	Interaction with RUNX1-1.				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										TGGATATCACGAAATAATTCC	0.393000													30	54					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884867	228884867	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:228884867C>T	ENST00000392056.3	-	7	749	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E235K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	235						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)		TTTATATTTTCATAATCTAGT	0.343000													57	91					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154834534	154834534	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:154834534G>A	ENST00000460393.1	+	6	641	c.521G>A	c.(520-522)tGg>tAg	p.W174*	MME_ENST00000360490.2_Nonsense_Mutation_p.W174*|MME_ENST00000493237.1_Nonsense_Mutation_p.W174*|MME_ENST00000492661.1_Nonsense_Mutation_p.W174*|MME_ENST00000462745.1_Nonsense_Mutation_p.W174*	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	174					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)	ACAGAAAACTGGGAGCAAAAA	0.343000													21	38					0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90605361	90605361	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:90605361C>T	ENST00000369352.1	+	1	1174	c.1174C>T	c.(1174-1176)Cca>Tca	p.P392S		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	392					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)		GTCCCAGGACCCAGAACCCTC	0.537000													39	62					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101751478	101751478	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:101751478G>A	ENST00000375001.3	+	5	1165	c.742G>A	c.(742-744)Ggg>Agg	p.G248R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	248	Nonhelical region 1 (NC1).				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)				AGAGACCAGTGGGCTGCAGGA	0.557000													15	34					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152711527	152711527	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:152711527C>T	ENST00000367255.5	-	53	8666	c.8065G>A	c.(8065-8067)Gaa>Aaa	p.E2689K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E2696K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2728K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2696K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2689K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2689					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)		AAGGCCTGTTCCCCCTTGCCA	0.458000										HNSCC(10;0.0054)			32	33					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15937001	15937001	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:15937001G>A	ENST00000504595.1	+	4	1663	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V	FBXL7_ENST00000329673.7_Silent_p.V382V|FBXL7_ENST00000510662.1_Silent_p.V347V	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	394					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						ACCACGGTGTGGAGTACCTCG	0.617000													14	18					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155469249	155469249	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:155469249C>T	ENST00000461783.3	+	9	3082	c.1809C>T	c.(1807-1809)acC>acT	p.T603T	TIAM2_ENST00000360366.4_Silent_p.T603T|TIAM2_ENST00000529824.2_Silent_p.T603T|TIAM2_ENST00000318981.5_Silent_p.T603T|TIAM2_ENST00000456144.1_Silent_p.T603T|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	603	PH 1.				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)		TGTAGGCCACCAGCCAGACAG	0.498000													45	66					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14806713	14806713	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:14806713C>T	ENST00000380881.4	-	19	4038	c.3223G>A	c.(3223-3225)Gaa>Aaa	p.E1075K	FREM1_ENST00000422223.2_Missense_Mutation_p.E1074K|FREM1_ENST00000380880.3_Missense_Mutation_p.E1074K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1074					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)		AGTATATTTTCGAGGTAGCCA	0.428000													7	1					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42222168	42222168	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:42222168G>A	ENST00000221992.6	+	6	1473	c.1359G>A	c.(1357-1359)ggG>ggA	p.G453G	CEACAM5_ENST00000398599.4_Silent_p.G452G|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.G453G	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	453	Ig-like 5.					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)		TGATTGATGGGAACATCCAGC	0.517000													35	65					0	0	1	0	0
MUCL1	118430	broad.mit.edu	37	12	55248385	55248385	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55248385C>T	ENST00000308796.6	+	1	65	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	MUCL1_ENST00000546809.1_Intron|MUCL1_ENST00000547990.1_Intron	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	7						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						CTTAGCAGTCCTGGTACTCTT	0.433000													23	24					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77472554	77472554	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:77472554G>A	ENST00000560626.2	-	4	2190	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L	PEAK1_ENST00000312493.4_Missense_Mutation_p.S572L|PEAK1_ENST00000558305.1_Missense_Mutation_p.S572L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	572					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										AGCTGTGGGTGATGTAGGTGC	0.383000													122	141					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835899	61835899	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:61835899C>T	ENST00000280772.1	-	37	4931	c.4740G>A	c.(4738-4740)ccG>ccA	p.P1580P	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1580	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						CAGTTTTTATCGGCGAAGACA	0.463000													95	103					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92149380	92149380	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:92149380G>A	ENST00000212355.4	-	17	2937	c.2472C>T	c.(2470-2472)tcC>tcT	p.S824S	TGFBR3_ENST00000525962.1_Silent_p.S824S|TGFBR3_ENST00000370399.2_Silent_p.S823S	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	824					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)		AGGCTGGCGGGGAGGTGGGGA	0.567000													4	14					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91682179	91682179	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:91682179C>T	ENST00000359028.2	+	23	5769	c.5544C>T	c.(5542-5544)gaC>gaT	p.D1848D	AKAP9_ENST00000356239.3_Silent_p.D1836D|AKAP9_ENST00000358100.2_Silent_p.D1848D			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1848	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)			CTGAAATAGACCCTGAAAATG	0.418000			T	BRAF	papillary thyroid								28	40					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254288	3254288	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:3254288C>T	ENST00000304646.2	+	1	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						AGTTCCTCCTCCTGGGACTCT	0.557000													26	35					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57409465	57409465	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:57409465T>C	ENST00000543257.1	-	9	1548	c.982A>G	c.(982-984)Aaa>Gaa	p.K328E	C8B_ENST00000535057.1_Missense_Mutation_p.K318E|C8B_ENST00000371237.4_Missense_Mutation_p.K380E	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	380	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						AAATCATTTTTGGCACAGGCA	0.403000													37	95					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79030152	79030152	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:79030152C>T	ENST00000446378.2	+	2	5595	c.5564C>T	c.(5563-5565)tCa>tTa	p.S1855L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1855				S -> G (in Ref. 3; AAH63134).		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)		AAGCAGTTTTCACTTATGAGA	0.333000													37	50					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221421	5221421	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5221421G>A	ENST00000321255.1	-	1	509	c.510C>T	c.(508-510)atC>atT	p.I170I		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTTCAGACAGATGATGGGGG	0.398000													33	73					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149879757	149879757	+	Splice_Site	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:149879757A>G	ENST00000369146.3	-	9	1871	c.1379_splice	c.e9-1	p.Y461_splice	SV2A_ENST00000369145.1_Splice_Site_p.Y461_splice	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	461					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGGCCATAGTAGCTGAAGAGT	0.522000													103	66					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83848462	83848462	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:83848462C>T	ENST00000349129.2	+	21	4961	c.4701C>T	c.(4699-4701)ttC>ttT	p.F1567F	DOPEY1_ENST00000369739.3_Silent_p.F1558F|DOPEY1_ENST00000237163.5_Silent_p.F1548F|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1567					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)		TTATTAATTTCTCAGAGGATG	0.418000													52	75					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887340	3887340	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:3887340C>T	ENST00000319331.3	+	2	1776	c.1015C>T	c.(1015-1017)Ctg>Ttg	p.L339L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	339						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TGTCCCTGCTCTGGAAAGCTT	0.478000													29	43					0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10127765	10127765	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:10127765G>A	ENST00000591589.1	+	2	385	c.196G>A	c.(196-198)Gag>Aag	p.E66K	RDH8_ENST00000171214.1_Missense_Mutation_p.E46K			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	46					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GGGGAAGAAGGAGACACTGGA	0.647000													15	12					0	0	1	0	0
PGAM2	5224	broad.mit.edu	37	7	44104758	44104758	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:44104758G>A	ENST00000297283.3	-	1	428	c.371C>T	c.(370-372)cCc>cTc	p.P124L	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	124	Poly-Pro.				gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						GTCCATCGGGGGCGGCGGGAT	0.632000													17	22					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104464411	104464411	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:104464411C>T	ENST00000372578.3	-	3	578	c.467G>A	c.(466-468)gGg>gAg	p.G156E	TEX13A_ENST00000372575.1_Missense_Mutation_p.G156E|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.G156E	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	156						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCACCCTGCCCCCTGCTCCCA	0.662000													19	2					0	0	1	0	0
C2orf80	389073	broad.mit.edu	37	2	209036794	209036794	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:209036794G>A	ENST00000341287.4	-	7	567	c.372C>T	c.(370-372)ccC>ccT	p.P124P	C2orf80_ENST00000453017.1_Intron|C2orf80_ENST00000451346.1_Silent_p.P105P	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	124										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						ATGAAACTCGGGGAACCTGAA	0.473000													80	99					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115335708	115335708	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:115335708G>A	ENST00000537906.1	+	5	404	c.242G>A	c.(241-243)gGa>gAa	p.G81E	HABP2_ENST00000541666.1_Silent_p.G92G|HABP2_ENST00000542051.1_Silent_p.G66G|HABP2_ENST00000351270.3_Silent_p.G92G			Q14520	HABP2_HUMAN	hyaluronan binding protein 2	0	EGF-like 1.				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)		TCGTCCATGGGAGCACCTTCA	0.527000													55	85					0	0	1	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364268	142364268	+	RNA	SNP	A	A	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:142364268A>C	ENST00000390397.2	+	0	71																											GGGGCCTTTTATCTCCTGGGA	0.498000													10	12					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044681	56044681	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:56044681C>T	ENST00000244728.5	-	3	732	c.335G>A	c.(334-336)gGa>gAa	p.G112E	COL21A1_ENST00000370819.1_Missense_Mutation_p.G112E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G112E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	112	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTGTGTTTCCTCCTAAGTA	0.468000													12	43					0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37687441	37687441	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:37687441C>T	ENST00000315215.7	+	6	990	c.627C>T	c.(625-627)tcC>tcT	p.S209S	GPR124_ENST00000412232.2_Silent_p.S209S			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	209	LRRCT.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGAATCGCTCCCTGCAGCTGT	0.672000													9	16					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109399125	109399125	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:109399125C>T	ENST00000283195.6	+	28	9302	c.9176C>T	c.(9175-9177)tCa>tTa	p.S3059L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	3059					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						GCAGAATTATCAAAGGAGACC	0.388000													66	99					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28719764	28719764	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:28719764G>A	ENST00000257197.3	-	11	1871	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.S537F	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	537	Cadherin 4.				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)			TACAAATTTGGATTCTCTATC	0.318000													36	27					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97770838	97770838	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	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													46	111					0	0	1	0	0
CST11	140880	broad.mit.edu	37	20	23432486	23432486	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:23432486C>T	ENST00000377009.3	-	2	333	c.300G>A	c.(298-300)acG>acA	p.T100T	CST11_ENST00000377007.3_Intron	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	100					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	p.T100T(1)		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)					GGACACAGTTCGTGGTCTCTG	0.522000													24	43					0	0	1	0	0
GPR155	151556	broad.mit.edu	37	2	175324620	175324620	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:175324620G>A	ENST00000392552.2	-	10	1995	c.1757C>T	c.(1756-1758)tCt>tTt	p.S586F	GPR155_ENST00000295500.4_Missense_Mutation_p.S586F|GPR155_ENST00000392551.2_Missense_Mutation_p.S586F	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	586					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						TTCTGGAATAGAGCTTGTAAA	0.408000													6	72					0	0	1	0	0
TAF6L	10629	broad.mit.edu	37	11	62554186	62554186	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:62554186G>T	ENST00000294168.3	+	11	1488	c.1287G>T	c.(1285-1287)gaG>gaT	p.E429D	RP11-727F15.12_ENST00000601484.1_RNA|TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	429					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CGGGGCCGGAGGACCCTTCTC	0.672000											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	20					1.33834e-09	1.34859e-09	1	1	0
NCOA6	23054	broad.mit.edu	37	20	33329294	33329294	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:33329294G>A	ENST00000374796.2	-	12	7336	c.4766C>T	c.(4765-4767)tCc>tTc	p.S1589F	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1589F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1589					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	p.S1589F(1)		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						CAAGGGAGTGGAAATGGAGGA	0.463000													58	103					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15967405	15967405	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:15967405G>A	ENST00000268712.3	-	35	5455	c.5198C>T	c.(5197-5199)tCc>tTc	p.S1733F	NCOR1_ENST00000395857.3_Missense_Mutation_p.S317F|NCOR1_ENST00000395851.1_Missense_Mutation_p.S1749F	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1733	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAGGTCGGAGGAAGCTGCAGC	0.567000													28	41					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784369	82784369	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:82784369G>A	ENST00000423517.2	-	2	1925	c.1588C>T	c.(1588-1590)Cca>Tca	p.P530S	PCLO_ENST00000333891.8_Missense_Mutation_p.P530S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	476	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						TGTTGAGATGGGGGTTTTGTT	0.557000													124	168					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44893724	44893724	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:44893724G>A	ENST00000326047.4	+	34	4146	c.3997G>A	c.(3997-3999)Gtg>Atg	p.V1333M	KIF15_ENST00000425755.1_Missense_Mutation_p.V968M	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1333					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)		AAGGAAGCAGGTGGAGTGTCT	0.393000													18	33					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244667	46244667	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:46244667C>T	ENST00000334344.6	+	15	2933	c.2761C>T	c.(2761-2763)Cca>Tca	p.P921S	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.P772S|ARID2_ENST00000444670.1_Missense_Mutation_p.P531S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	921	Gln-rich.				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)		ACCACAGCAGCCAACCCAACA	0.473000			"""N, S, F"""		hepatocellular carcinoma								66	101					0	0	1	0	0
ZNF664	144348	broad.mit.edu	37	12	124496707	124496707	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:124496707C>A	ENST00000539644.1	+	6	1846	c.16C>A	c.(16-18)Ccc>Acc	p.P6T	ZNF664_ENST00000337815.4_Missense_Mutation_p.P6T|ZNF664_ENST00000392404.3_Missense_Mutation_p.P6T|RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000538932.2_Missense_Mutation_p.P6T			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		CTACAAGTGCCCCATGTGTAG	0.368000													15	54					1.05317e-09	1.06201e-09	1	1	0
SEMA3C	10512	broad.mit.edu	37	7	80440014	80440014	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:80440014G>C	ENST00000265361.3	-	6	1012	c.451C>G	c.(451-453)Caa>Gaa	p.Q151E	SEMA3C_ENST00000536800.1_Missense_Mutation_p.Q3E|SEMA3C_ENST00000544525.1_Missense_Mutation_p.Q169E|SEMA3C_ENST00000419255.2_Missense_Mutation_p.Q151E	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	151	Sema.				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						ATGAAAACTTGGTCCTTTATT	0.338000													29	44					0	0	1	0	0
CRYGC	1420	broad.mit.edu	37	2	208994267	208994267	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:208994267G>T	ENST00000282141.3	-	2	187	c.150C>A	c.(148-150)aaC>aaA	p.N50K		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	50	Beta/gamma crystallin 'Greek key' 2.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GACCTTGGTAGTTGGGACGCT	0.597000													56	101					3.89483e-19	3.96371e-19	1	1	0
ZDHHC17	23390	broad.mit.edu	37	12	77216283	77216283	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:77216283C>T	ENST00000426126.2	+	8	1518	c.869C>T	c.(868-870)tCc>tTc	p.S290F	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.S290F	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	290					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						GACAATCCGTCCTTCCTTAGA	0.403000													14	16					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650469	55650469	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:55650469C>T	ENST00000339140.3	+	1	637	c.325C>T	c.(325-327)Cct>Tct	p.P109S		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	109					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAACATTTCTCCTTTCCCTCA	0.532000													4	19					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28233255	28233255	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:28233255G>A	ENST00000305242.5	-	12	1731	c.1639C>T	c.(1639-1641)Cca>Tca	p.P547S	ARMC4_ENST00000545014.1_Missense_Mutation_p.P72S|ARMC4_ENST00000537576.1_Missense_Mutation_p.P239S	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	547							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						CTCTTGTGTGGAGAATCAAGT	0.428000													37	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179647762	179647762	+	Silent	SNP	A	A	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179647762A>C	ENST00000589042.1	-	18	3095	c.2871T>G	c.(2869-2871)ggT>ggG	p.G957G	TTN_ENST00000591111.1_Silent_p.G957G|TTN_ENST00000460472.2_Silent_p.G911G|TTN_ENST00000342175.6_Silent_p.G911G|TTN_ENST00000342992.6_Silent_p.G957G|TTN_ENST00000359218.5_Silent_p.G911G|TTN_ENST00000360870.5_Silent_p.G957G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	957	Ig-like 3.						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)			TGACAGATTCACCTTCTATGA	0.398000													30	47					0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109225533	109225533	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:109225533C>T	ENST00000392644.4	+	8	1116	c.948C>T	c.(946-948)ctC>ctT	p.L316L	ARMC2_ENST00000368972.3_Silent_p.L151L	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	316							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GAAGTATTCTCCTGAAGACCC	0.378000													44	69					0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80427427	80427427	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:80427427G>A	ENST00000265361.3	-	11	1673	c.1112C>T	c.(1111-1113)cCa>cTa	p.P371L	SEMA3C_ENST00000536800.1_Missense_Mutation_p.P223L|SEMA3C_ENST00000544525.1_Missense_Mutation_p.P389L|SEMA3C_ENST00000419255.2_Missense_Mutation_p.P371L	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													19	29					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84685073	84685073	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:84685073G>A	ENST00000284136.6	-	7	864	c.821C>T	c.(820-822)tCc>tTc	p.S274F	SEMA3D_ENST00000444867.1_Missense_Mutation_p.S274F	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	274	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GGTTTTATCGGAGGTACTGCC	0.279000													24	40					0	0	1	0	0
TEKT2	27285	broad.mit.edu	37	1	36552305	36552305	+	Splice_Site	SNP	C	C	T	rs140991291		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:36552305C>T	ENST00000207457.3	+	5	616	c.488_splice	c.e5-1	p.C163_splice		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	163					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTTTCCCCAGCCTCTTGCAGG	0.582000													71	49					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271951	22271951	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:22271951G>A	ENST00000594947.1	+	4	1543	c.1399G>A	c.(1399-1401)Gcc>Acc	p.A467T		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	467					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)				GTGTGGCAAAGCCTTTAACCA	0.408000													26	31					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023673	76023673	+	Silent	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:76023673T>C	ENST00000393004.2	-	5	2096	c.1875A>G	c.(1873-1875)gaA>gaG	p.E625E	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.E526E|FILIP1_ENST00000237172.7_Silent_p.E625E			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	625										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						TCTTATTATCTTCCGGGCAGG	0.413000													118	150					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139563879	139563879	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:139563879C>T	ENST00000358430.3	-	10	2071	c.1839G>A	c.(1837-1839)caG>caA	p.Q613Q	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	613						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CCTGTGGGGCCTGACCGGAAG	0.632000													54	69					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307831	54307831	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:54307831G>A	ENST00000545554.1	+	1	2731	c.2731G>A	c.(2731-2733)Gaa>Aaa	p.E911K	UNC13C_ENST00000260323.11_Missense_Mutation_p.E911K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E911K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	911					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)		CCTTTCATATGAAACACCTTA	0.383000													36	54					0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35244085	35244085	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:35244085G>A	ENST00000408931.3	-	7	1526	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	334						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						ACCTTACCTCGATTTGGGGTT	0.527000													19	15					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66515031	66515031	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:66515031C>T	ENST00000359626.5	+	8	1244	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	360					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CTCCTGCTCTCCGAGAAGCCC	0.413000													34	43					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189875398	189875398	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:189875398C>T	ENST00000304636.3	+	50	4206	c.4036C>T	c.(4036-4038)Cct>Tct	p.P1346S	COL3A1_ENST00000317840.5_Missense_Mutation_p.P1043S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1346	Fibrillar collagen NC1.				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)	TCCTGAACTTCCTGAAGATGT	0.418000													62	98					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179580394	179580394	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179580394A>T	ENST00000589042.1	-	89	25971	c.25747T>A	c.(25747-25749)Tgg>Agg	p.W8583R	TTN_ENST00000591111.1_Missense_Mutation_p.W8266R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.W7339R|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8266	Ig-like 68.						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)			TCCTTATACCATAAAACTTTG	0.398000													13	21					0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5867247	5867247	+	Missense_Mutation	SNP	C	C	T	rs151065401		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:5867247C>T	ENST00000252675.5	-	5	1052	c.490G>A	c.(490-492)Gga>Aga	p.G164R	FUT5_ENST00000588525.1_Missense_Mutation_p.G164R			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	164					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						TTGAAGTATCCGTCCAGGGCT	0.672000													19	34					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	12071456	12071456	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:12071456G>A	ENST00000356352.2	-	2	906	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C	UPF2_ENST00000397053.2_Missense_Mutation_p.R145C|UPF2_ENST00000357604.5_Missense_Mutation_p.R145C			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	145					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)				TTTTTGCTACGAAGTTCCTTT	0.373000													65	97					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54173405	54173405	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:54173405G>A	ENST00000259782.4	+	1	153	c.57G>A	c.(55-57)atG>atA	p.M19I	TINAG_ENST00000370864.3_Start_Codon_SNP_p.M1I|TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Missense_Mutation_p.M15I	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	19					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AAATCTGGATGGAGAAGCAGT	0.393000													44	104					0	0	1	0	0
STARD3NL	83930	broad.mit.edu	37	7	38259166	38259166	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:38259166G>A	ENST00000009041.7	+	7	811	c.553_splice	c.e7-1	p.R185_splice	STARD3NL_ENST00000396013.1_Splice_Site_p.R185_splice|STARD3NL_ENST00000434197.1_Splice_Site_p.R167_splice|STARD3NL_ENST00000544203.1_Splice_Site_p.R178_splice	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	185	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						TCTCTTCCAGGACTCCTGATA	0.398000													23	39					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15538731	15538731	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:15538731G>A	ENST00000344577.2	-	5	773	c.748C>T	c.(748-750)Cca>Tca	p.P250S	LIPI_ENST00000536861.1_Missense_Mutation_p.P229S	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	229					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)		CCTCCATTTGGATAAAAATCT	0.353000													33	54					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143806855	143806855	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:143806855C>T	ENST00000408979.2	+	1	249	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	60					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)					CCATGTACTTCTTCCTCTCAC	0.468000													92	142					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36896919	36896919	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:36896919G>A	ENST00000301807.6	-	12	4409	c.2512C>T	c.(2512-2514)Cac>Tac	p.H838Y	TRANK1_ENST00000429976.2_Missense_Mutation_p.H1388Y|TRANK1_ENST00000428977.2_Missense_Mutation_p.H838Y	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1388					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						TAGAGCTCGTGGATGGACCAT	0.507000													74	103					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128481310	128481310	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:128481310G>A	ENST00000325888.8	+	12	2161	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	FLNC_ENST00000346177.6_Missense_Mutation_p.E634K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	634					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						CTGGCCCACGGAGCCTGGGGA	0.622000													85	101					0	0	1	0	0
OR3A2	4995	broad.mit.edu	37	17	3181392	3181392	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:3181392C>T	ENST00000408891.2	-	1	876	c.838G>A	c.(838-840)Gat>Aat	p.D280N		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	280					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						ACCCCTTTATCCTTGTCTGAA	0.478000													53	56					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655007	19655007	+	Silent	SNP	C	C	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:19655007C>G	ENST00000586018.1	+	8	1773	c.1671C>G	c.(1669-1671)gtC>gtG	p.V557V	CILP2_ENST00000291495.4_Silent_p.V551V			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	551						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						ACCACGAGGTCAAGGCCATGC	0.617000													28	45					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90874310	90874310	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:90874310G>A	ENST00000394980.1	+	9	3747	c.3428G>A	c.(3427-3429)gGa>gAa	p.G1143E	MMRN1_ENST00000508372.1_Missense_Mutation_p.G885E|MMRN1_ENST00000394981.1_Missense_Mutation_p.G446E|MMRN1_ENST00000264790.2_Missense_Mutation_p.G1143E			Q13201	MMRN1_HUMAN	multimerin 1	1143	C1q.				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)		CCGTATCTTGGAGTATATGTT	0.358000													40	55					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155234036	155234036	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:155234036G>A	ENST00000368361.4	-	11	1517	c.1202C>T	c.(1201-1203)cCt>cTt	p.P401L	CLK2_ENST00000361168.5_Missense_Mutation_p.P400L|CLK2_ENST00000536801.1_Missense_Mutation_p.P401L|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Missense_Mutation_p.P399L			P49760	CLK2_HUMAN	CDC-like kinase 2	401	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	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)			CATCCGGGAAGGGATAGGACC	0.453000								Other conserved DNA damage response genes					44	33					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814336	106814336	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:106814336C>T	ENST00000407775.2	+	8	2276	c.2026C>T	c.(2026-2028)Ccc>Tcc	p.P676S	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P407S|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P544S|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P544S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	676					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)			TCCCAGTGTCCCCTTAGTGGA	0.423000													19	25					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876527	35876527	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:35876527C>T	ENST00000303115.3	+	8	1448	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F	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)			ATTCTTACTTCCCTGGGATCA	0.483000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						23	17					0	0	1	0	0
CLUH	23277	broad.mit.edu	37	17	2605261	2605261	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:2605261A>G	ENST00000570628.1	-	4	557	c.452T>C	c.(451-453)gTt>gCt	p.V151A	CLUH_ENST00000538975.1_Missense_Mutation_p.V151A|CLUH_ENST00000575014.1_Missense_Mutation_p.V83A|CLUH_ENST00000435359.1_Missense_Mutation_p.V151A					clustered mitochondria (cluA/CLU1) homolog																		GTTGCAGTCAACCCCGTTGAA	0.647000													16	28					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145532258	145532258	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:145532258G>A	ENST00000369304.3	+	8	1077	c.902G>A	c.(901-903)gGg>gAg	p.G301E	ITGA10_ENST00000538811.1_Missense_Mutation_p.G170E|ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000539363.1_Missense_Mutation_p.G158E	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	301	VWFA.				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)					ACACGCTATGGGATTGCAGTG	0.542000													17	53					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465432	77465432	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:77465432C>T	ENST00000282849.5	-	3	673	c.255G>A	c.(253-255)agG>agA	p.R85R	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	85					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						ATCGCTTTTTCCTGCCGTTGT	0.478000													92	155					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9119232	9119232	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:9119232C>T	ENST00000382496.5	-	15	2468	c.1803G>A	c.(1801-1803)tgG>tgA	p.W601*		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	601	TSP type-1 2.				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						ACCACGAGGTCCAGGGAGTCC	0.652000													8	19					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99448879	99448879	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:99448879C>T	ENST00000397899.2	-	5	803	c.472G>A	c.(472-474)Gac>Aac	p.D158N	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2			KIAA1211-like																		GGCAGCCCGTCGTCCTCAGAG	0.587000													42	30					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176759108	176759108	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:176759108G>A	ENST00000367662.3	+	18	6043	c.4879G>A	c.(4879-4881)Gaa>Aaa	p.E1627K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1627	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						CCAGGAACGTGAAAAGGTAAG	0.423000													93	71					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583260	82583260	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:82583260C>T	ENST00000423517.2	-	5	7346	c.7009G>A	c.(7009-7011)Gaa>Aaa	p.E2337K	PCLO_ENST00000333891.8_Missense_Mutation_p.E2337K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2268	Poly-Pro.|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						AACACGGTTTCGGATAAGCTA	0.428000													53	70					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509723	106509723	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:106509723G>A	ENST00000359195.3	+	2	2027	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K	PIK3CG_ENST00000496166.1_Missense_Mutation_p.E573K|PIK3CG_ENST00000440650.2_Missense_Mutation_p.E573K	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	573					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						AGAGGACAAAGAATTGCTCTG	0.473000													44	61					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373768	126373768	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:126373768G>A	ENST00000394329.3	+	9	11610	c.11597G>A	c.(11596-11598)tGt>tAt	p.C3866Y	FAT4_ENST00000335110.5_Missense_Mutation_p.C2164Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3866	EGF-like 2; calcium-binding (Potential).				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						ATAGATGAATGTCTTCCATCA	0.488000													14	29					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156907966	156907966	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:156907966C>T	ENST00000257527.4	-	23	2826	c.2748G>A	c.(2746-2748)tcG>tcA	p.S916S	ADAM19_ENST00000394020.1_Silent_p.S918S|ADAM19_ENST00000430702.2_Intron	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	0					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)			TCTAGATTTTCGAGCTAATCA	0.517000													10	24					0	0	1	0	0
C3orf38	285237	broad.mit.edu	37	3	88205210	88205210	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:88205210C>T	ENST00000318887.3	+	3	725	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	C3orf38_ENST00000486971.1_Intron	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	139					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGTTGATTTTCGTCGCCTAGG	0.338000													31	42					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49162803	49162803	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:49162803G>A	ENST00000307885.4	-	20	3992	c.3298C>T	c.(3298-3300)Cgg>Tgg	p.R1100W	ADCY6_ENST00000550422.1_Missense_Mutation_p.R1047W|ADCY6_ENST00000357869.3_Missense_Mutation_p.R1047W	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1100					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGTGGCTTCCGAGCCCCGATG	0.582000													70	89					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10335516	10335516	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:10335516C>T	ENST00000377086.1	+	11	1115	c.913C>T	c.(913-915)Ccc>Tcc	p.P305S	KIF1B_ENST00000377081.1_Missense_Mutation_p.P305S|KIF1B_ENST00000377093.4_Missense_Mutation_p.P299S|KIF1B_ENST00000263934.6_Missense_Mutation_p.P299S|KIF1B_ENST00000377083.1_Missense_Mutation_p.P299S			O60333	KIF1B_HUMAN	kinesin family member 1B	305	Interaction with KBP.|Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGATTTTATTCCCTACAGGGA	0.318000													38	15					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026456	79026456	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:79026456C>T	ENST00000446378.2	+	2	1899	c.1868C>T	c.(1867-1869)gCt>gTt	p.A623V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	623	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATGTAGAAGCTATAGCTGAA	0.458000													62	92					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835232	38835232	+	Splice_Site	SNP	C	C	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:38835232C>G	ENST00000449082.2	-	1	269	c.270_splice	c.e1+1	p.R90_splice		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	90					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)	TAGCTCTTACCCGGTGTGTGC	0.567000													70	96					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152496506	152496506	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:152496506C>T	ENST00000427231.2	-	62	8956	c.8754G>A	c.(8752-8754)gtG>gtA	p.V2918V	NEB_ENST00000409198.1_Silent_p.V2918V|NEB_ENST00000604864.1_Silent_p.V2918V|NEB_ENST00000172853.10_Silent_p.V2918V|NEB_ENST00000397345.3_Silent_p.V2918V|NEB_ENST00000603639.1_Silent_p.V2918V	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2918					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)		TGCATTTTTCCACATCCAAAG	0.408000													46	70					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38357408	38357408	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:38357408C>T	ENST00000379705.3	-	2	920	c.63G>A	c.(61-63)agG>agA	p.R21R	TRPC4_ENST00000426868.2_Silent_p.R21R|TRPC4_ENST00000338947.5_Silent_p.R21R|TRPC4_ENST00000355779.2_Silent_p.R21R|TRPC4_ENST00000358477.2_Silent_p.R21R|TRPC4_ENST00000379679.1_Silent_p.R21R|TRPC4_ENST00000379681.3_Silent_p.R21R|TRPC4_ENST00000379673.2_Silent_p.R21R|TRPC4_ENST00000447043.1_Silent_p.R21R			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	21					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)		CTCTTACTATCCTTAGAGGGA	0.418000													82	96					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117663617	117663617	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:117663617G>A	ENST00000368508.3	-	28	4813	c.4615C>T	c.(4615-4617)Cct>Tct	p.P1539S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P1533S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1539	Fibronectin type-III 6.				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)		TGTTCCAAAGGATCTGAATAA	0.333000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								26	33					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24105553	24105553	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:24105553G>A	ENST00000303531.7	+	7	908	c.756G>A	c.(754-756)agG>agA	p.R252R	PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000321728.7_Silent_p.R252R	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	252	C2.				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)	TGACCAGCAGGAATGACTTCA	0.423000													41	46					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144201	55144201	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:55144201C>T	ENST00000396331.1	+	7	1305	c.948C>T	c.(946-948)atC>atT	p.I316I	LILRB1_ENST00000396327.3_Silent_p.I316I|LILRB1_ENST00000396321.2_Silent_p.I316I|LILRB1_ENST00000324602.7_Silent_p.I316I|LILRB1_ENST00000396315.1_Silent_p.I316I|LILRB1_ENST00000434867.2_Silent_p.I316I|LILRB1_ENST00000396317.1_Silent_p.I316I|LILRB1_ENST00000448689.1_Silent_p.I316I|LILRB1_ENST00000418536.2_Silent_p.I316I|LILRB1_ENST00000396332.4_Silent_p.I316I|LILRB1_ENST00000427581.2_Silent_p.I352I	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	316	Ig-like C2-type 4.				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)		CCCTGGACATCCTGATCGCAG	0.682000										HNSCC(37;0.09)			27	37					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100368857	100368857	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:100368857C>T	ENST00000281806.2	-	6	1296	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	MCHR2_ENST00000369212.1_Missense_Mutation_p.E328K|MCHR2_ENST00000445970.1_Missense_Mutation_p.E328K	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	328						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)		TTGTTGATTTCCTTCTCAGTC	0.413000													63	65					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815563	23815563	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:23815563C>T	ENST00000264867.2	-	8	1662	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	515					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)				CTTTCATCTTCGCTGTCATCA	0.413000													60	87					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120575151	120575151	+	Silent	SNP	G	G	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:120575151G>C	ENST00000427067.2	-	25	2610	c.2430C>G	c.(2428-2430)ctC>ctG	p.L810L	ENPP2_ENST00000522167.1_Silent_p.L424L|ENPP2_ENST00000259486.6_Silent_p.L841L|ENPP2_ENST00000522826.1_Silent_p.L814L|ENPP2_ENST00000075322.6_Silent_p.L789L			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	789					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)			AGGACACAGAGAGAGGGCCGT	0.517000													27	32					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203672833	203672833	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:203672833G>A	ENST00000357681.5	+	8	2114	c.991G>A	c.(991-993)Gga>Aga	p.G331R	ATP2B4_ENST00000341360.2_Missense_Mutation_p.G331R|ATP2B4_ENST00000391954.2_Missense_Mutation_p.G331R|ATP2B4_ENST00000367218.3_Missense_Mutation_p.G331R|ATP2B4_ENST00000367219.3_Missense_Mutation_p.G319R	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	331					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGCCAGGAGGGAATCGACAA	0.537000													84	58					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318049	30318049	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:30318049G>A	ENST00000375377.1	-	3	1129	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	343	Pro-rich.							p.P343L(1)		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						GTATGAGGGCGGAGGCACGTA	0.582000													57	94					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692461	135692461	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:135692461C>T	ENST00000513104.1	-	2	897	c.615G>A	c.(613-615)gaG>gaA	p.E205E	TRPC7_ENST00000426057.2_Silent_p.E205E|TRPC7_ENST00000355180.3_Silent_p.E205E	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	205					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)			TCCGCTGTTTCTCGGTGCACT	0.602000													34	43					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74044001	74044001	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:74044001G>A	ENST00000409561.1	+	3	2772	c.2651G>A	c.(2650-2652)aGa>aAa	p.R884K		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	884										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GCCATGAAGAGAAAGGCTCAA	0.493000													15	18					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142622683	142622683	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:142622683G>A	ENST00000265310.1	-	8	1411	c.1063C>T	c.(1063-1065)Cgt>Tgt	p.R355C	TRPV5_ENST00000442623.1_Missense_Mutation_p.R355C	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	355					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)					TTGCCACCACGAAACTTAAGG	0.517000													26	45					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46781710	46781710	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:46781710G>A	ENST00000394809.4	-	1	511	c.396C>T	c.(394-396)ttC>ttT	p.F132F	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	132					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)				TTGATTTCTGGAACGTGGCCC	0.647000													23	33					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20443780	20443780	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20443780G>A	ENST00000305051.5	+	1	178	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCGGGTGACAGAATTTGTGTT	0.398000													77	78					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123893749	123893749	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:123893749C>T	ENST00000375024.1	+	1	30	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	10					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)		TGACAGCGTTCATCCTCACGG	0.542000													66	127					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635228	33635228	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:33635228G>A	ENST00000380099.3	+	4	2020	c.2012G>A	c.(2011-2013)cGa>cAa	p.R671Q	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	671	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			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)		GAGTATGCCCGACTGTGCTTT	0.577000													26	46					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670840	49670840	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:49670840C>T	ENST00000561648.1	-	4	2276	c.2223G>A	c.(2221-2223)gtG>gtA	p.V741V	ZNF423_ENST00000262383.2_Silent_p.V741V|ZNF423_ENST00000562871.1_Silent_p.V681V|ZNF423_ENST00000567169.1_Silent_p.V624V|ZNF423_ENST00000535559.1_Silent_p.V624V|ZNF423_ENST00000562520.1_Silent_p.V681V|ZNF423_ENST00000563137.2_Silent_p.V681V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	741					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)				TGCTGTGCTTCACCGCCAGGT	0.577000													23	37					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76600944	76600944	+	Splice_Site	SNP	G	G	A	rs113436141		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:76600944G>A	ENST00000369981.3	+	27	3146		c.e27-1		MYO6_ENST00000369985.4_Splice_Site|MYO6_ENST00000369975.1_Splice_Site|MYO6_ENST00000369977.3_Splice_Site			Q9UM54	MYO6_HUMAN	myosin VI						actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTTTTTATTAGGAAACTTGAG	0.284000													8	22					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748020	19748020	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:19748020C>T	ENST00000400113.3	-	5	1440	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	446					'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)		TCTTCACCTTCTTCAGCCTCG	0.562000													52	67					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46832684	46832684	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:46832684C>T	ENST00000339613.2	+	12	1748	c.1493C>T	c.(1492-1494)cCt>cTt	p.P498L	HIF3A_ENST00000377670.4_Missense_Mutation_p.P554L|HIF3A_ENST00000600383.1_Missense_Mutation_p.P485L|HIF3A_ENST00000420102.2_Missense_Mutation_p.P503L|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000244303.6_Missense_Mutation_p.P485L|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Missense_Mutation_p.P552L			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	554	NTAD.|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)		TGCTCCAGCCCTTCCAGAGGG	0.677000													6	9					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114486106	114486106	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:114486106C>T	ENST00000394779.3	-	10	1855	c.1611G>A	c.(1609-1611)agG>agA	p.R537R	C9orf84_ENST00000374287.3_Silent_p.R576R|C9orf84_ENST00000394777.4_Silent_p.R537R|C9orf84_ENST00000318737.4_Silent_p.R576R	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	576										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						TATCTGTTCCCCTTTCCTGAT	0.328000													9	26					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125405445	125405445	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:125405445G>A	ENST00000431078.1	+	13	2348	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	662	Fibrinogen C-terminal.				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)		GGGCAGCATGGAACAGCTGGA	0.627000													9	11					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151699961	151699961	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:151699961G>A	ENST00000392800.2	+	6	1075	c.821G>A	c.(820-822)gGa>gAa	p.G274E	GALNTL5_ENST00000431418.2_Missense_Mutation_p.G274E|GALNTL5_ENST00000483959.1_3'UTR	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	274						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)		CTTGTAAGGGGAACTTTTGAT	0.433000													46	56					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165175151	165175151	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:165175151C>T	ENST00000342310.3	-	8	1320	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	LMX1A_ENST00000367893.4_Missense_Mutation_p.R313Q|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Missense_Mutation_p.R313Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	313						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)					GAGACCCTGTCGGAAGGGATC	0.582000													33	89					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31759511	31759511	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:31759511G>A	ENST00000375663.3	-	8	1416	c.976C>T	c.(976-978)Cct>Tct	p.P326S	VARS_ENST00000444930.2_Missense_Mutation_p.P31S	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	326					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)	GACACATTAGGACGCTGATGG	0.592000													32	79					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20844358	20844358	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20844358G>A	ENST00000262715.5	-	42	6194	c.6154C>T	c.(6154-6156)Ccc>Tcc	p.P2052S	TEP1_ENST00000556935.1_Missense_Mutation_p.P1944S|TEP1_ENST00000545983.1_Missense_Mutation_p.P390S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2052					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTGCCACAGGGAAAGTCTTCT	0.607000													35	70					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100384146	100384146	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:100384146C>T	ENST00000262233.6	+	16	1919	c.1780C>T	c.(1780-1782)Cct>Tct	p.P594S	EML1_ENST00000327921.9_Missense_Mutation_p.P582S|EML1_ENST00000334192.4_Missense_Mutation_p.P613S	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	594						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGGTTTTCATCCTTCAGGGTC	0.428000													20	4					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167159	140167159	+	Silent	SNP	G	G	A	rs146494753		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140167159G>A	ENST00000504120.2	+	1	1284	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	PCDHA1_ENST00000394633.3_Silent_p.R428R|PCDHA1_ENST00000378133.3_Silent_p.R428R	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCGCGCGGGACGGGGGCT	0.642000													52	97					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114964187	114964187	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:114964187G>A	ENST00000358465.2	-	11	2015	c.1932C>T	c.(1930-1932)agC>agT	p.S644S	TRIM33_ENST00000369543.2_Silent_p.S644S|TRIM33_ENST00000450349.2_Silent_p.S252S	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	644					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		CTGTAGTAGGGCTCGTTGGGT	0.468000			T	RET	papillary thyroid								35	101					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131119	45131119	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:45131119G>A	ENST00000457685.2	-	6	2068	c.745C>T	c.(745-747)Cat>Tat	p.H249Y	ZNF334_ENST00000593880.1_Missense_Mutation_p.H310Y|ZNF334_ENST00000347606.4_Missense_Mutation_p.H287Y			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H287Y(1)		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)				TCTCCAGTATGAATTCTTCGG	0.418000													64	89					0	0	1	0	0
VCL	7414	broad.mit.edu	37	10	75849098	75849098	+	Silent	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:75849098T>C	ENST00000211998.4	+	9	1261	c.1167T>C	c.(1165-1167)gaT>gaC	p.D389D	VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Silent_p.D389D|VCL_ENST00000478896.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	389	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AGAAGATCGATGCTGCTCAGG	0.423000													23	36					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57358328	57358328	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:57358328A>T	ENST00000518770.1	-	3	338	c.185T>A	c.(184-186)tTt>tAt	p.F62Y	PENK_ENST00000314922.3_Intron|PENK_ENST00000523051.1_Intron|PENK_ENST00000451791.2_Intron			P01210	PENK_HUMAN	proenkephalin	56					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CTGTTGCGGAAACTCTGTCTC	0.692000													26	36					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47533301	47533301	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:47533301C>T	ENST00000334194.3	+	1	142	c.139C>T	c.(139-141)Cct>Tct	p.P47S		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	47						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						GCACCTGTTTCCTGCACCCCC	0.488000													45	26					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55361663	55361663	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55361663C>T	ENST00000449076.1	-	4	352	c.220G>A	c.(220-222)Gga>Aga	p.G74R	TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000316577.8_Missense_Mutation_p.G74R	NM_001136030.2	NP_001129502.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	74																	TCAGAAAATCCTTCTTCAGAG	0.368000													25	23					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486182	36486182	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:36486182C>T	ENST00000342292.4	-	11	3290	c.3270G>A	c.(3268-3270)gcG>gcA	p.A1090A		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1090						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)				GAGCTTTAATCGCCAGCCCCA	0.582000													26	38					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18183173	18183173	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:18183173C>A	ENST00000380033.4	-	14	2488	c.2356G>T	c.(2356-2358)Gag>Tag	p.E786*		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	786										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGCTTTGACTCCTGCTCCAGC	0.502000													80	16					1.91123e-38	1.95006e-38	1	1	0
FILIP1	27145	broad.mit.edu	37	6	76022447	76022447	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:76022447C>T	ENST00000393004.2	-	5	3322	c.3101G>A	c.(3100-3102)cGg>cAg	p.R1034Q	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.R935Q|FILIP1_ENST00000237172.7_Missense_Mutation_p.R1034Q			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1034								p.R1034L(1)		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						GAGGATTGTCCGTCCCATGGG	0.468000													107	137					0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139754484	139754484	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:139754484G>A	ENST00000263549.3	-	4	1713	c.840C>T	c.(838-840)atC>atT	p.I280I		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	280						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					AACTTTTCCGGATATGGTACA	0.468000													24	46					0	0	1	0	0
TMEM194A	23306	broad.mit.edu	37	12	57454686	57454686	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:57454686G>A	ENST00000300128.4	-	8	1046	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	TMEM194A_ENST00000379391.3_Silent_p.L268L	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	341						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTTCTGTCAGGAGACGAGGGG	0.433000													30	42					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175559	143175559	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:143175559C>T	ENST00000408916.1	+	1	594	c.594C>T	c.(592-594)gtC>gtT	p.V198V	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	198					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)					TTTTTCTGGTCTCAATTATGC	0.463000													29	33					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23910909	23910909	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:23910909G>A	ENST00000382298.3	-	10	7694	c.7106C>T	c.(7105-7107)cCa>cTa	p.P2369L	SACS_ENST00000402364.1_Missense_Mutation_p.P1619L|SACS_ENST00000382292.3_Missense_Mutation_p.P2369L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2369					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)		ATAAAGGTATGGTGCCGCCTC	0.348000													27	35					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62887190	62887190	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:62887190C>T	ENST00000281156.4	-	2	397	c.119G>A	c.(118-120)gGa>gAa	p.G40E		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	40					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)		TTCCTTTTTTCCATCAGAACC	0.328000													11	12					0	0	1	0	0
WNT9A	7483	broad.mit.edu	37	1	228111911	228111911	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:228111911T>A	ENST00000272164.5	-	3	553	c.543A>T	c.(541-543)gaA>gaT	p.E181D	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	181					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGCCCAGGAATTCCTTGACGA	0.622000													44	118					0	0	1	0	0
RASL12	51285	broad.mit.edu	37	15	65347442	65347442	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:65347442G>A	ENST00000220062.4	-	5	872	c.596C>T	c.(595-597)tCc>tTc	p.S199F	RASL12_ENST00000434605.2_Missense_Mutation_p.S188F|RASL12_ENST00000421977.3_Missense_Mutation_p.S180F	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	199					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CCTCTCCTCGGAGATGAAGAG	0.657000													5	7					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84694139	84694139	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:84694139G>A	ENST00000286744.5	+	27	4831	c.4607G>A	c.(4606-4608)aGa>aAa	p.R1536K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1536K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1536	TSP type-1 9.					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)			CCTCTGGGAAGAAAACCATGT	0.512000													21	26					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100366321	100366321	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:100366321C>T	ENST00000294724.4	+	26	3970	c.3492C>T	c.(3490-3492)taC>taT	p.Y1164Y	AGL_ENST00000370165.3_Silent_p.Y1164Y|AGL_ENST00000370163.3_Silent_p.Y1164Y|AGL_ENST00000361302.3_Silent_p.Y1148Y|AGL_ENST00000361522.4_Silent_p.Y1147Y|AGL_ENST00000361915.3_Silent_p.Y1164Y|AGL_ENST00000370161.2_Silent_p.Y1148Y	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1164					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TCCAGGATTACTGTAAAATGG	0.458000													169	112					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141473590	141473590	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:141473590G>A	ENST00000389484.3	-	37	6946	c.5975C>T	c.(5974-5976)tCc>tTc	p.S1992F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1992					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)		CAGGCCTTGGGAAATAATTAC	0.353000										TSP Lung(27;0.18)			52	73					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43816458	43816458	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:43816458G>A	ENST00000382031.1	+	5	3532	c.3501G>A	c.(3499-3501)ggG>ggA	p.G1167G	MAP1A_ENST00000300231.5_Silent_p.G929G|MAP1A_ENST00000399453.1_Silent_p.G929G			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	929						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)	AGATCATAGGGAAAGGCTTGT	0.502000													48	42					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87679199	87679199	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:87679199A>T	ENST00000320005.5	-	6	853	c.806T>A	c.(805-807)cTa>cAa	p.L269Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	269					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTGGATAAATAGCATATCATA	0.428000													28	41					0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13756547	13756547	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:13756547A>G	ENST00000202816.1	-	3	1114	c.1007T>C	c.(1006-1008)tTa>tCa	p.L336S		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	336				L -> S (in Ref. 2; BAA91123).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						ATCTTTATCTAATTCTCTCCA	0.378000													57	91					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612589	20612589	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20612589G>A	ENST00000333629.1	+	1	695	c.695G>A	c.(694-696)gGa>gAa	p.G232E		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCCTCTGAAGGAAAGAGCAAG	0.493000													79	113					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786416	121786416	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:121786416G>A	ENST00000261367.7	+	12	3443	c.2015G>A	c.(2014-2016)gGa>gAa	p.G672E	CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G565E|SNCAIP_ENST00000542191.1_Missense_Mutation_p.G183E|SNCAIP_ENST00000414317.2_Missense_Mutation_p.G227E|SNCAIP_ENST00000379538.3_Missense_Mutation_p.G259E|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G672E|SNCAIP_ENST00000261368.8_Missense_Mutation_p.G625E			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	625					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)		CAGTTATTGGGAAAGGAAATC	0.458000													35	46					0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50293704	50293704	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:50293704C>T	ENST00000313601.6	+	5	929	c.545C>T	c.(544-546)aCc>aTc	p.T182I	GNAI2_ENST00000440628.1_Missense_Mutation_p.T130I|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000451956.1_Missense_Mutation_p.T145I|GNAI2_ENST00000266027.5_Missense_Mutation_p.T166I|GNAI2_ENST00000422163.1_Missense_Mutation_p.T166I|GNAI2_ENST00000536647.1_Missense_Mutation_p.T101I	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	182					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CGCGTAAAGACCACGGGGATC	0.597000													26	35					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13258985	13258985	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:13258985G>A	ENST00000276297.4	-	3	1576	c.1167C>T	c.(1165-1167)caC>caT	p.H389H	DLC1_ENST00000316609.5_Silent_p.H389H|DLC1_ENST00000511869.1_Silent_p.H389H	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	389					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						TCACAGGAACGTGCCGCCGCA	0.488000													14	36					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248845049	248845049	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248845049A>G	ENST00000342623.3	-	1	580	c.557T>C	c.(556-558)gTt>gCt	p.V186A		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CTCACAGGAAACCAGGGCCAA	0.493000													24	62					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607252	84607252	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:84607252C>T	ENST00000344803.2	+	4	1914	c.1867C>T	c.(1867-1869)Cat>Tat	p.H623Y		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TGAAATTAACCATCTGGAGTG	0.478000													46	49					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101235571	101235571	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:101235571C>T	ENST00000259455.2	-	6	1315	c.856G>A	c.(856-858)Gag>Aag	p.E286K	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	286					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)	CAAGAAGGCTCGTACCAGCCC	0.522000													29	36					0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298345	107298345	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:107298345G>A	ENST00000374781.2	-	1	792	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	250					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						TGTAGAGGATGAACATATAGG	0.428000													53	76					0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124172707	124172707	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:124172707T>C	ENST00000303372.5	+	7	1002	c.874T>C	c.(874-876)Tat>Cat	p.Y292H	TCTN2_ENST00000426174.2_Missense_Mutation_p.Y291H	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	292					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		AAAGAAGGCATATTTTACTAT	0.373000													67	66					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165827045	165827045	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:165827045C>T	ENST00000366882.1	-	14	1346	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	PDE10A_ENST00000354448.4_Missense_Mutation_p.E398K|PDE10A_ENST00000539869.2_Missense_Mutation_p.E408K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	398	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AAGTTGTTTTCATCTGTTTTA	0.408000													45	49					0	0	1	0	0
RARRES1	5918	broad.mit.edu	37	3	158428644	158428644	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:158428644T>C	ENST00000237696.5	-	3	698	c.418A>G	c.(418-420)Acc>Gcc	p.T140A	RARRES1_ENST00000498640.1_Intron|RARRES1_ENST00000479756.1_Missense_Mutation_p.T140A	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	140					negative regulation of cell proliferation	integral to membrane				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	ACATTGATGGTTGGTCTGGGT	0.418000													61	68					0	0	1	0	0
ELAVL1	1994	broad.mit.edu	37	19	8032476	8032476	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:8032476G>A	ENST00000407627.2	-	5	758	c.629C>T	c.(628-630)cCc>cTc	p.P210L	ELAVL1_ENST00000351593.5_Missense_Mutation_p.P237L|ELAVL1_ENST00000596459.1_Missense_Mutation_p.P210L|ELAVL1_ENST00000593807.1_Intron	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	210					3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GTGGTGAACGGGGCCTCCGAA	0.622000													13	19					0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107456920	107456920	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:107456920G>A	ENST00000318763.5	+	1	261	c.218G>A	c.(217-219)gGa>gAa	p.G73E		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						ATCCTCCTGGGAAATAGCCTC	0.448000													94	171					0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584229	88584229	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:88584229C>T	ENST00000339673.6	+	6	1398	c.1299C>T	c.(1297-1299)ctC>ctT	p.L433L	RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Silent_p.L417L|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	433					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)		AGGAGGGCCTCCAGTCTCACA	0.552000													47	69					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21860951	21860951	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:21860951G>A	ENST00000399982.2	-	33	6550	c.6486C>T	c.(6484-6486)aaC>aaT	p.N2162N	CHD8_ENST00000557364.1_Silent_p.N2162N|CHD8_ENST00000430710.3_Silent_p.N1883N	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2162					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)		GGTCAATACGGTTTATCAGGA	0.483000													46	67					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141722220	141722220	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:141722220G>A	ENST00000475668.2	+	7	917	c.863G>A	c.(862-864)aGa>aAa	p.R288K	MGAM_ENST00000549489.2_Missense_Mutation_p.R288K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	288	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)	ATATTTAACAGAGACACAACT	0.458000													25	58					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42374521	42374521	+	Silent	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:42374521A>G	ENST00000290472.3	-	9	833	c.739T>C	c.(739-741)Ttg>Ctg	p.L247L		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	247					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCAATGGTCAAGGGCCTCAGG	0.498000													28	33					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33146491	33146491	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:33146491C>T	ENST00000341947.2	-	18	1911	c.1684G>A	c.(1684-1686)Gga>Aga	p.G562R	COL11A2_ENST00000361917.1_Missense_Mutation_p.G455R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G481R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G536R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G502R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G476R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G515R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G541R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	562	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						CCTGGGAGTCCATCAAAACCT	0.567000													55	156					0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104170392	104170392	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:104170392C>T	ENST00000374861.3	+	3	584	c.300C>T	c.(298-300)ttC>ttT	p.F100F	ZNF189_ENST00000339664.2_Silent_p.F114F|ZNF189_ENST00000259395.4_Silent_p.F72F	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	114					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F114L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGGGATCTTCCTATGGGAAA	0.378000													35	36					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	476139	476139	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:476139C>T	ENST00000264938.3	-	14	2145	c.2136G>A	c.(2134-2136)gaG>gaA	p.E712E	SLC9A3_ENST00000514375.1_Silent_p.E703E|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	712						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)			GCGCACCTTTCTCCTTGATGG	0.642000													11	9					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256521	24256521	+	Silent	SNP	G	G	A	rs141164035		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:24256521G>A	ENST00000538205.1	+	10	1207	c.660G>A	c.(658-660)ggG>ggA	p.G220G	ADAMDEC1_ENST00000522298.1_Silent_p.G220G|ADAMDEC1_ENST00000256412.4_Silent_p.G299G|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	299	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.G299G(1)		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)		CTAACCTGGGGAAAAAGATCC	0.512000													15	25					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32137490	32137490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:32137490G>T	ENST00000312561.4	+	4	4015	c.3601G>T	c.(3601-3603)Gag>Tag	p.E1201*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		TTCAGAGGAAGAGAAACAAAA	0.428000													33	58					2.85442e-18	2.90169e-18	1	1	0
POTED	317754	broad.mit.edu	37	21	14982959	14982959	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:14982959G>A	ENST00000299443.5	+	1	462	c.410G>A	c.(409-411)cGa>cAa	p.R137Q		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	137						plasma membrane		p.R137Q(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CACATCCGTCGAGAAGATCTG	0.592000													40	8					0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683056	140683056	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140683056G>A	ENST00000239451.4	-	1	556	c.377C>T	c.(376-378)cCc>cTc	p.P126L		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	126					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AAGCTCAGTGGGGCAGAGAGC	0.522000													67	84					0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145913020	145913020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:145913020C>T	ENST00000354952.2	-	8	1076	c.836G>A	c.(835-837)tGg>tAg	p.W279*	PLSCR4_ENST00000446574.2_Nonsense_Mutation_p.W279*|PLSCR4_ENST00000433593.2_Nonsense_Mutation_p.W174*|PLSCR4_ENST00000493382.1_Nonsense_Mutation_p.W279*|PLSCR4_ENST00000383083.2_Nonsense_Mutation_p.W189*	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	279					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CAAACCATTCCACTTCCGGAT	0.428000													35	42					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692165	116692165	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:116692165G>A	ENST00000357780.3	-	3	723	c.609C>T	c.(607-609)ccC>ccT	p.P203P		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)		CGTCAGCGTAGGGCGTAAGGC	0.622000													105	129					0	0	1	0	0
AZU1	566	broad.mit.edu	37	19	830879	830879	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:830879G>T	ENST00000233997.2	+	4	553	c.532G>T	c.(532-534)Gac>Tac	p.D178Y		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	178	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		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;0.000172)|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)		GACCCCCGAGGACCAGTGTCG	0.672000													15	21					4.14922e-12	4.19632e-12	1	1	0
ANK3	288	broad.mit.edu	37	10	61819602	61819602	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:61819602T>C	ENST00000373827.2	-	40	5071	c.4901A>G	c.(4900-4902)aAc>aGc	p.N1634S	ANK3_ENST00000280772.1_Intron|ANK3_ENST00000503366.1_Missense_Mutation_p.N1641S|ANK3_ENST00000355288.2_Missense_Mutation_p.N774S|RP11-388P9.2_ENST00000414383.1_RNA	NM_001204403.1	NP_001191332.1	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3701	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						ATGCTCTATGTTCCCCTGGGA	0.468000													67	103					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615971	140615971	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140615971C>T	ENST00000526308.1	+	0	2034					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CCGGGCTGTTCGGCGTGTGGG	0.701000													52	71					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2224643	2224643	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:2224643C>T	ENST00000399655.1	+	2	568	c.303C>T	c.(301-303)ccC>ccT	p.P101P	CACNA1C_ENST00000399629.1_Silent_p.P101P|CACNA1C_ENST00000399644.1_Silent_p.P101P|CACNA1C_ENST00000399649.1_Silent_p.P101P|CACNA1C_ENST00000399621.1_Silent_p.P101P|CACNA1C_ENST00000399603.1_Silent_p.P101P|CACNA1C_ENST00000344100.3_Silent_p.P101P|CACNA1C_ENST00000399641.1_Silent_p.P101P|CACNA1C_ENST00000399638.1_Silent_p.P101P|CACNA1C_ENST00000399597.1_Silent_p.P101P|CACNA1C_ENST00000480911.1_Silent_p.P101P|CACNA1C_ENST00000399617.1_Silent_p.P101P|CACNA1C_ENST00000399637.1_Silent_p.P101P|CACNA1C_ENST00000347598.4_Silent_p.P101P|CACNA1C_ENST00000399634.1_Silent_p.P101P|CACNA1C_ENST00000402845.3_Silent_p.P101P|CACNA1C_ENST00000327702.7_Silent_p.P101P|CACNA1C_ENST00000399601.1_Silent_p.P101P|CACNA1C_ENST00000399591.1_Silent_p.P101P|CACNA1C_ENST00000406454.3_Silent_p.P101P|CACNA1C_ENST00000399595.1_Silent_p.P101P|CACNA1C_ENST00000399606.1_Silent_p.P101P|CACNA1C_ENST00000335762.5_Silent_p.P101P	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	101					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	p.P101P(3)|p.P131P(1)		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)	CACGCCCGCCCCGAGCCCTGC	0.617000													4	51					0	0	1	0	0
RNF167	26001	broad.mit.edu	37	17	4848235	4848235	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:4848235C>T	ENST00000262482.6	+	10	1633	c.977C>T	c.(976-978)cCa>cTa	p.P326L	RNF167_ENST00000572430.1_Missense_Mutation_p.P326L|RNF167_ENST00000575111.1_Missense_Mutation_p.P326L|RNF167_ENST00000571816.1_Missense_Mutation_p.P326L|RNF167_ENST00000576229.1_Missense_Mutation_p.P291L	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	326					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						TCCTTAGCCCCAGCTCCCCTT	0.572000													88	84					0	0	1	0	0
XK	7504	broad.mit.edu	37	X	37587034	37587034	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:37587034G>A	ENST00000378616.3	+	3	857	c.654G>A	c.(652-654)gaG>gaA	p.E218E	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	218					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)				GGAGCTTTGAGATTGCCACTC	0.463000													27	2					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56749512	56749512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:56749512G>A	ENST00000314128.4	-	4	384	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	STAT2_ENST00000557235.1_Nonsense_Mutation_p.Q117*|STAT2_ENST00000418572.2_Nonsense_Mutation_p.Q117*			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	121					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						CTCTGAGCCTGGATCAAAATT	0.448000													51	105					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5436295	5436295	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:5436295G>A	ENST00000345221.3	-	11	3697	c.3143C>T	c.(3142-3144)tCc>tTc	p.S1048F	NLRP1_ENST00000269280.4_Missense_Mutation_p.S1048F|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.S1018F|NLRP1_ENST00000262467.5_Missense_Mutation_p.S1052F|NLRP1_ENST00000577119.1_Missense_Mutation_p.S1018F|NLRP1_ENST00000572272.1_Missense_Mutation_p.S1048F	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	1048					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)				TACCTCTGGGGAGCTTTCCTC	0.607000													9	37					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227361	28227361	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:28227361C>T	ENST00000343684.3	+	1	264	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	71										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						CGCTCTGGGTCGCGAGGGCGG	0.607000													35	89					0	0	1	0	0
EOGT	285203	broad.mit.edu	37	3	69053576	69053576	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:69053576G>A	ENST00000383701.3	-	8	1315	c.573C>T	c.(571-573)atC>atT	p.I191I	EOGT_ENST00000295571.5_Silent_p.I191I|EOGT_ENST00000540764.1_Silent_p.I90I|EOGT_ENST00000540955.1_5'UTR	NM_001278689.1	NP_001265618.1			EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase																		TCAATGTACGGATGTCAAGTT	0.383000													34	41					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527595	23527595	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:23527595G>A	ENST00000296682.3	+	11	2580	c.2398G>A	c.(2398-2400)Ggg>Agg	p.G800R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	800					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						GACACACACAGGGGAGAAGCC	0.567000										HNSCC(3;0.000094)			80	96					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814354	123814354	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:123814354C>T	ENST00000321252.2	-	1	226	c.192G>A	c.(190-192)cgG>cgA	p.R64R		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	64			R -> W (in dbSNP:rs6590021).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;0.0401)		AGGAGAAATTCCGCAGGAAGA	0.488000													49	68					0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91200880	91200880	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:91200880G>A	ENST00000341233.4	-	5	733	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L	SLC16A12_ENST00000371790.4_Silent_p.L145L	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	115						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AGAACTCCCAGAGTGAGGTAG	0.468000													32	50					0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52863032	52863032	+	Silent	SNP	G	G	A	rs139360268	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:52863032G>A	ENST00000252250.6	-	9	1556	c.1509C>T	c.(1507-1509)gtC>gtT	p.V503V		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	503	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AGCCACTGCCGACACCGCTGG	0.602000													11	23					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117403231	117403231	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:117403231C>T	ENST00000321322.6	-	4	699	c.698G>A	c.(697-699)aGg>aAg	p.R233K	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	173	Ig-like C2-type 3.				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)		AATAAAAAACCTGTGTTCTGG	0.512000													21	33					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768201	117768201	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:117768201C>T	ENST00000317775.6	-	2	1359	c.674G>A	c.(673-675)gGa>gAa	p.G225E	NOS1_ENST00000338101.4_Missense_Mutation_p.G225E|NOS1_ENST00000344089.3_Missense_Mutation_p.G225E	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	225	PIN (nNOS-inhibiting protein) binding.				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)	AGGTGCCCCTCCCTTGACCCC	0.562000													64	75					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72985117	72985117	+	Missense_Mutation	SNP	G	G	A	rs147778900		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:72985117G>A	ENST00000553530.1	+	15	1357	c.1150G>A	c.(1150-1152)Gta>Ata	p.V384I	RGS6_ENST00000406236.4_Missense_Mutation_p.V384I|RGS6_ENST00000343854.6_Missense_Mutation_p.V347I|RGS6_ENST00000555571.1_Missense_Mutation_p.V384I|RGS6_ENST00000434263.2_Missense_Mutation_p.V315I|RGS6_ENST00000402788.2_Missense_Mutation_p.V384I|RGS6_ENST00000554782.1_Missense_Mutation_p.V245I|RGS6_ENST00000553525.1_Missense_Mutation_p.V384I|RGS6_ENST00000355512.6_Missense_Mutation_p.V384I|RGS6_ENST00000556437.1_Missense_Mutation_p.V384I|RGS6_ENST00000404301.2_Missense_Mutation_p.V384I|RGS6_ENST00000407322.4_Missense_Mutation_p.V384I	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	384	RGS.				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|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GGCCAAGAGGGTAGAAGAAAT	0.498000													31	13					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26775274	26775274	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:26775274G>A	ENST00000381340.3	-	25	3603	c.3187C>T	c.(3187-3189)Cat>Tat	p.H1063Y	ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1063					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATGATCAGATGAATGAGGACC	0.438000													20	29					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382962	22382962	+	Missense_Mutation	SNP	C	C	T	rs150917273		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:22382962C>T	ENST00000328795.4	+	1	581	c.490C>T	c.(490-492)Ctc>Ttc	p.L164F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	164					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)		GGTCCTCATCCTCCGCTTGCC	0.522000													53	125					0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11891339	11891339	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:11891339C>T	ENST00000357901.4	+	4	802	c.700C>T	c.(700-702)Cct>Tct	p.P234S	ZNF441_ENST00000454339.2_Missense_Mutation_p.P167S	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TACAGCGTTTCCTGCTTATAG	0.398000													38	49					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121437753	121437753	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:121437753C>T	ENST00000260197.7	+	22	3283	c.3154C>T	c.(3154-3156)Cca>Tca	p.P1052S	SORL1_ENST00000525532.1_5'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1052	EGF-like.				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)		CAGTGTGCTTCCATCAGGGGA	0.532000													23	33					0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502207	20502207	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20502207G>A	ENST00000315693.2	-	1	712	c.711C>T	c.(709-711)ttC>ttT	p.F237F		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	237					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)		AGAGAGTGGAGAAAGCCTTAG	0.478000													38	47					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40521419	40521419	+	Missense_Mutation	SNP	C	C	T	rs147930313		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:40521419C>T	ENST00000347077.4	+	7	2458	c.2242C>T	c.(2242-2244)Cct>Tct	p.P748S	ZNF546_ENST00000600094.1_Missense_Mutation_p.P722S|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	748					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)					TGGTGAGAAACCTTATAGCTG	0.398000													52	65					0	0	1	0	0
DEFB114	245928	broad.mit.edu	37	6	49928133	49928133	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:49928133G>A	ENST00000322066.3	-	2	81	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	28					defense response to bacterium	extracellular region		p.R28C(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TTGGTGCAACGATCAGCATTC	0.353000													20	60					0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102153987	102153987	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:102153987G>A	ENST00000306176.1	+	1	129	c.29G>A	c.(28-30)gGa>gAa	p.G10E	ZPLD1_ENST00000491959.1_Intron|ZPLD1_ENST00000466937.1_5'UTR	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	0						integral to membrane		p.G10V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATGTGCAGGGGAAATGATGAA	0.368000													30	41					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754118	49754118	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:49754118C>T	ENST00000304801.3	-	1	935	c.783G>A	c.(781-783)gaG>gaA	p.E261E		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	261					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)					TCTTGGCTCCCTCTTCATCAA	0.408000													77	202					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53015379	53015379	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:53015379C>T	ENST00000421239.2	+	6	1989	c.1745C>T	c.(1744-1746)tCa>tTa	p.S582L	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TTGATTGATTCATCAATCAAG	0.393000													22	48					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31341701	31341701	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:31341701C>A	ENST00000542188.1	-	12	1813	c.1500G>T	c.(1498-1500)ttG>ttT	p.L500F	TRPM1_ENST00000256552.6_Missense_Mutation_p.L483F|TRPM1_ENST00000397795.2_Missense_Mutation_p.L461F	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	461					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)		TCGCTTGCTCCAAAGCATTCA	0.527000													40	50					1.47197e-15	1.49415e-15	1	1	0
SKOR1	390598	broad.mit.edu	37	15	68119358	68119358	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:68119358G>A	ENST00000380035.2	+	2	1250	c.1192G>A	c.(1192-1194)Ggc>Agc	p.G398S	SKOR1_ENST00000554240.1_Missense_Mutation_p.G359S|SKOR1_ENST00000554054.1_Missense_Mutation_p.G370S|SKOR1_ENST00000389002.1_Missense_Mutation_p.G354S|SKOR1_ENST00000341418.5_Missense_Mutation_p.G505S			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	398					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CCATCCTTACGGCTTCCCTAC	0.672000													6	10					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031486	79031486	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:79031486G>A	ENST00000446378.2	+	2	6929	c.6898G>A	c.(6898-6900)Gaa>Aaa	p.E2300K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2300						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)		CGATTCAGAGGAAATGAACAT	0.348000													58	92					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934978	113934978	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:113934978G>A	ENST00000335953.4	+	2	1336	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	ZBTB16_ENST00000392996.2_Missense_Mutation_p.R319Q	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	319					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)		CCCACTGGCCGACCTGAGCAC	0.637000													19	33					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995867	57995867	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:57995867G>A	ENST00000316770.2	-	1	523	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GTGAGCTGCAGGGAGGGGAAG	0.642000													24	18					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67799944	67799944	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:67799944G>A	ENST00000544246.1	-	2	3320	c.2629C>T	c.(2629-2631)Ccc>Tcc	p.P877S	PCDH9_ENST00000328454.5_Missense_Mutation_p.P877S|PCDH9_ENST00000377865.2_Missense_Mutation_p.P877S|PCDH9_ENST00000377861.3_Missense_Mutation_p.P877S|PCDH9_ENST00000456367.1_Missense_Mutation_p.P877S	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	877					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GAGCTTTTGGGAGACTTCCTT	0.443000													58	85					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124268530	124268530	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:124268530G>A	ENST00000409039.3	+	8	878	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	285	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)		ATTCTGGAGGGAAAGAAATGC	0.448000													9	48					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46365593	46365593	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:46365593G>A	ENST00000359930.4	-	3	1120	c.269C>T	c.(268-270)cCc>cTc	p.P90L	SULF2_ENST00000361612.4_Missense_Mutation_p.P90L|SULF2_ENST00000484875.1_Missense_Mutation_p.P90L|SULF2_ENST00000467815.1_Missense_Mutation_p.P90L|SULF2_ENST00000478766.1_5'UTR	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	90					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						GGAGCGTGAGGGGCAGCACAT	0.597000													32	45					0	0	1	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356723	104356723	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:104356723C>T	ENST00000374806.1	-	1	560	c.490G>A	c.(490-492)Gag>Aag	p.E164K	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	161							calcium ion binding			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)	TTGTGGATCTCCAGGTCTCTG	0.478000													25	57					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71663352	71663352	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:71663352G>A	ENST00000268485.3	+	2	594	c.550G>A	c.(550-552)Gga>Aga	p.G184R	MARVELD3_ENST00000567501.1_5'UTR|MARVELD3_ENST00000565261.1_Silent_p.K129K|MARVELD3_ENST00000299952.4_Missense_Mutation_p.G184R|MARVELD3_ENST00000567566.1_Missense_Mutation_p.G184R	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	184						integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				AGAGGCGGAAGGACTCCTGGA	0.512000													42	49					0	0	1	0	0
DNAJB4	11080	broad.mit.edu	37	1	78478829	78478829	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:78478829C>T	ENST00000370763.5	+	2	563	c.306C>T	c.(304-306)ttC>ttT	p.F102F	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	102					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CTGCATTTTTCGGAGGGTCCA	0.453000													55	116					0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387783	46387783	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:46387783G>A	ENST00000302165.3	-	1	1593	c.1250C>T	c.(1249-1251)cCt>cTt	p.P417L		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GGGCACACCAGGGGTCTCAGC	0.721000													18	19					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119300560	119300560	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:119300560C>T	ENST00000338891.7	-	11	2868	c.2425G>A	c.(2425-2427)Gaa>Aaa	p.E809K	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.E809K|FAM184A_ENST00000368475.4_Missense_Mutation_p.E689K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E689K	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	809										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCTTCTAATTCAAACCGAAGA	0.348000													46	38					0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87912207	87912207	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:87912207G>A	ENST00000380079.4	-	3	834	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	STEAP4_ENST00000414498.1_Missense_Mutation_p.R245C|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	245					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GGAAAGATACGATTTGGAATG	0.373000													56	54					0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145641323	145641323	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:145641323C>T	ENST00000276833.5	-	1	573	c.270G>A	c.(268-270)cgG>cgA	p.R90R	SLC39A4_ENST00000301305.3_Silent_p.R115R	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	115						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	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;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			AGAGGCCAGCCCGAGCGTCCT	0.721000													3	0					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28604431	28604431	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:28604431C>T	ENST00000434452.1	-	6	813	c.659G>A	c.(658-660)gGa>gAa	p.G220E	DSC3_ENST00000360428.4_Missense_Mutation_p.G220E	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	220	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGCTGAATATCCATCTGCAGT	0.393000													13	54					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966563	41966563	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:41966563G>A	ENST00000298919.7	+	10	1590	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E	PDZRN4_ENST00000539469.2_Missense_Mutation_p.G403E|PDZRN4_ENST00000402685.2_Missense_Mutation_p.G661E			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	661							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)				GAGCAAGAGGGAGTGGAGCAT	0.453000													38	62					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16291952	16291952	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:16291952C>T	ENST00000205557.7	-	10	1293	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	422	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)		AGGACGCTCTCGGTCAGCCGC	0.627000													10	21					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103179761	103179761	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:103179761C>T	ENST00000424685.2	-	45	7103	c.6944G>A	c.(6943-6945)gGa>gAa	p.G2315E	RELN_ENST00000343529.5_Missense_Mutation_p.G2315E|RELN_ENST00000428762.1_Missense_Mutation_p.G2315E			P78509	RELN_HUMAN	reelin	2315					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)		AGAAATATTTCCTCCAATAAG	0.373000													15	20					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44148712	44148712	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:44148712C>T	ENST00000223357.3	+	8	1330	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	AEBP1_ENST00000454218.1_3'UTR	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	342					cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCAGAGAAACCCAAAAAGGAG	0.627000													14	18					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41585285	41585285	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:41585285C>T	ENST00000262415.3	+	15	2290	c.2218C>T	c.(2218-2220)Cga>Tga	p.R740*	DHX8_ENST00000540306.1_Nonsense_Mutation_p.R740*	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	740						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)		CATCCCAGGTCGAACATATCC	0.443000													48	63					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325484	31325484	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:31325484G>A	ENST00000269197.5	+	12	5672	c.5672G>A	c.(5671-5673)aGc>aAc	p.S1891N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1891					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						ATTGTTCACAGCCCTGAGGTC	0.507000													229	126					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6138254	6138254	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:6138254G>A	ENST00000400104.3	-	14	1338	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	L3MBTL4_ENST00000284898.6_Missense_Mutation_p.P380S|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.P193S|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.P380S|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.P380S			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	380					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)				CCGGGAGTAGGACAGACAGCT	0.438000													7	28					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072257	240072257	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:240072257C>T	ENST00000255380.4	+	5	2285	c.1506C>T	c.(1504-1506)atC>atT	p.I502I		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	502					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)	CCTTCATCATCACTTGGACCC	0.493000													48	162					0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10473274	10473274	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:10473274C>T	ENST00000538557.1	+	8	1015	c.771C>T	c.(769-771)tcC>tcT	p.S257S	PGD_ENST00000270776.8_Silent_p.S270S|PGD_ENST00000541529.1_Silent_p.S248S			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	270					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)		CCGCCATCTCCGCCCTGGAAT	0.537000													29	10					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48691161	48691161	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:48691161G>A	ENST00000314191.2	-	84	11765	c.11709C>T	c.(11707-11709)ttC>ttT	p.F3903F	PRKDC_ENST00000338368.3_Silent_p.F3872F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3904	PI3K/PI4K.				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)				GAGAGCTGGCGAAGTGGGAGC	0.577000								Non-homologous end-joining					8	15					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49831850	49831850	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:49831850G>A	ENST00000527477.1	+	0	2075																											ATCCCATAAAGCCCTCTTCCT	0.373000													84	80					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33288354	33288354	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:33288354G>A	ENST00000374542.5	-	4	1258	c.1054C>T	c.(1054-1056)Cta>Tta	p.L352L	DAXX_ENST00000266000.6_Silent_p.L352L|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Silent_p.L277L	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	352	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						GGATCTGATAGTGCAGGGTCA	0.512000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								30	73					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175899014	175899014	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:175899014C>T	ENST00000359240.3	+	5	3008	c.2338C>T	c.(2338-2340)Cct>Tct	p.P780S	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.P780S|ADAM29_ENST00000404450.4_Missense_Mutation_p.P780S|ADAM29_ENST00000514159.1_Missense_Mutation_p.P780S	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	780	9 X 9 AA approximate repeats.				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)		GAGTCAACCTCCTGTGATGCC	0.572000													67	81					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581975	84581975	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:84581975G>T	ENST00000286744.5	+	16	2056	c.1832G>T	c.(1831-1833)gGc>gTc	p.G611V	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G611V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	611	TSP type-1 4.					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)			GAGTGTGAAGGCCCCAAGCTG	0.632000													17	44					9.16793e-09	9.23143e-09	1	1	0
EARS2	124454	broad.mit.edu	37	16	23546328	23546328	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:23546328C>T	ENST00000449606.1	-	4	870	c.839G>A	c.(838-840)aGg>aAg	p.R280K	EARS2_ENST00000563459.1_Missense_Mutation_p.R280K|EARS2_ENST00000563232.1_Missense_Mutation_p.R280K|EARS2_ENST00000564501.1_Missense_Mutation_p.R280K|EARS2_ENST00000564987.1_5'UTR	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	280					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	GCTGCCATCCCTGTTGAGGAG	0.612000													13	16					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073301	134073301	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:134073301C>T	ENST00000264360.4	+	1	2832	c.2006C>T	c.(2005-2007)tCc>tTc	p.S669F		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	669	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCGCCCCTTTCCTCCACCGCC	0.736000													24	20					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927669	55927669	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:55927669T>C	ENST00000313447.1	-	1	124	c.125A>G	c.(124-126)aAc>aGc	p.N42S		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CATAGTTAGGTTGCCCACCAC	0.423000													62	80					0	0	1	0	0
CLEC2B	9976	broad.mit.edu	37	12	10005967	10005967	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:10005967C>T	ENST00000228438.2	-	5	1315	c.382G>A	c.(382-384)Gat>Aat	p.D128N	CLEC2B_ENST00000538152.1_Missense_Mutation_p.D59N	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	128	C-type lectin.					integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						GCACCATCATCGCTGAGGTAG	0.418000													25	47					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416297	105416297	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:105416297G>A	ENST00000333244.5	-	7	5610	c.5491C>T	c.(5491-5493)Ccg>Tcg	p.P1831S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1831						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)			CCGAACGACGGCATCTTGAAC	0.612000													26	263					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113736850	113736850	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:113736850A>T	ENST00000397030.1	+	17	2121	c.2084A>T	c.(2083-2085)cAc>cTc	p.H695L	MCF2L_ENST00000375597.4_Missense_Mutation_p.H660L|MCF2L_ENST00000434480.2_Missense_Mutation_p.H668L|MCF2L_ENST00000442652.2_Missense_Mutation_p.H692L|MCF2L_ENST00000535094.2_Missense_Mutation_p.H662L|MCF2L_ENST00000375601.3_Missense_Mutation_p.H666L|MCF2L_ENST00000375608.3_Missense_Mutation_p.H692L|MCF2L_ENST00000423482.2_Missense_Mutation_p.H660L|MCF2L_ENST00000421756.1_Missense_Mutation_p.H666L|MCF2L_ENST00000375604.2_Missense_Mutation_p.H719L			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	692	DH.				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|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	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;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TATCACTTCCACAACAGGTGG	0.562000													9	10					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111368561	111368561	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:111368561C>T	ENST00000352690.4	+	14	1858	c.1618C>T	c.(1618-1620)Cct>Tct	p.P540S	CD96_ENST00000283285.5_Missense_Mutation_p.P556S	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	556					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						AAGACCTCCACCTTTCAAGCC	0.438000									Opitz Trigonocephaly syndrome				49	66					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121344399	121344399	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:121344399G>A	ENST00000297848.3	+	41	4949	c.4679G>A	c.(4678-4680)gGa>gAa	p.G1560E	COL14A1_ENST00000247781.3_Missense_Mutation_p.G1465E|COL14A1_ENST00000309791.4_Missense_Mutation_p.G1560E	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1560	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)			GGAAAGGATGGATCCTCGGGA	0.463000													36	29					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121414325	121414325	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:121414325G>A	ENST00000260197.7	+	13	1883	c.1754G>A	c.(1753-1755)gGc>gAc	p.G585D	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	585					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)		TTTGTGTATGGCCTCCTCACA	0.493000													57	77					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233802629	233802629	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:233802629C>T	ENST00000366621.3	+	2	812	c.644C>T	c.(643-645)tCc>tTc	p.S215F	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.S99F	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	215						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)	TTCCTGGAATCCTTTTATTTT	0.488000													30	81					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170151172	170151172	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:170151172T>C	ENST00000263816.3	-	5	761	c.476A>G	c.(475-477)aAc>aGc	p.N159S	LRP2_ENST00000443831.1_Missense_Mutation_p.N159S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	159	LDL-receptor class A 4.				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)	CTGACTGGTGTTATAGCAGGC	0.378000													20	29					0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141619579	141619579	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:141619579C>T	ENST00000548136.1	+	1	963	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	302					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)					AGAGGCCCTTCGGGATGGGGT	0.423000													38	64					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155735978	155735978	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:155735978G>A	ENST00000437809.1	-	21	3408	c.3286C>T	c.(3286-3288)Cct>Tct	p.P1096S	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.P1096S|GON4L_ENST00000368331.1_Missense_Mutation_p.P1096S|GON4L_ENST00000271883.5_Missense_Mutation_p.P1096S			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1096					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGGGCACAGGGGCAGAAGAG	0.562000													40	81					0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6972356	6972356	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:6972356C>T	ENST00000229268.8	+	15	1821	c.1769C>T	c.(1768-1770)tCc>tTc	p.S590F	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.S590F	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	590					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACAGATGTGTCCATCGAGATG	0.607000													16	26					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14022146	14022146	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:14022146G>A	ENST00000382080.1	-	5	1205	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L	RP11-3G21.1_ENST00000527110.1_RNA|SGCZ_ENST00000421524.2_Silent_p.L117L	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	151					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GCAGAAAACAGCACCCTGCCA	0.408000													26	39					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16577669	16577669	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:16577669G>A	ENST00000375592.3	-	10	1866	c.1650C>T	c.(1648-1650)gcC>gcT	p.A550A		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	550										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)		CTGGGGAGACGGCCCCTGCAA	0.592000													40	13					0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128585919	128585919	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:128585919G>A	ENST00000402030.2	+	3	288	c.216G>A	c.(214-216)ggG>ggA	p.G72G	IRF5_ENST00000357234.5_Silent_p.G72G|IRF5_ENST00000477535.1_Silent_p.G72G|IRF5_ENST00000473745.1_Silent_p.G72G|IRF5_ENST00000249375.4_Silent_p.G72G	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	72					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						AGGAGACAGGGAAATACACCG	0.607000													14	28					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9783736	9783736	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:9783736G>A	ENST00000304374.2	+	1	479	c.83G>A	c.(82-84)gGg>gAg	p.G28E		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	28					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)	AACGCCGTGGGGGGCTCGGCG	0.697000													3	2					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164733018	164733018	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:164733018G>A	ENST00000264382.3	-	33	3954	c.3892C>T	c.(3892-3894)Cca>Tca	p.P1298S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1298	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)	GAAATTGCTGGATCCTAAAAT	0.333000										HNSCC(35;0.089)			22	32					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27950530	27950530	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:27950530C>T	ENST00000379992.2	-	6	589	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	LINGO2_ENST00000308675.3_Missense_Mutation_p.R47Q	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	47	LRRNT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGCGATCAATCGCCTTCTGTG	0.488000													63	14					0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38978632	38978632	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:38978632C>T	ENST00000269576.5	-	1	215	c.206G>A	c.(205-207)gGc>gAc	p.G69D	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	69	Gly-rich.|Head.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ACCTGATGAGCCCCCAAAGCA	0.537000													46	66					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47809287	47809287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:47809287C>T	ENST00000359568.5	+	19	3888	c.3781C>T	c.(3781-3783)Cag>Tag	p.Q1261*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1261					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)					GAGGGTCTTCCAGAGCCTCAG	0.607000													44	60					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25468401	25468401	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:25468401G>A	ENST00000453082.2	+	0	885				SNORD115-29_ENST00000362834.1_RNA	NR_003343.1																						TTGGGTCAATGATGAGAACCT	0.522000													100	167					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135026287	135026287	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:135026287C>T	ENST00000304613.3	+	24	4325	c.4304C>T	c.(4303-4305)aCc>aTc	p.T1435I	KNDC1_ENST00000368572.2_Missense_Mutation_p.T1437I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1435					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)		CGCCCCTACACCATTGCTGCC	0.677000													13	18					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62177279	62177279	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:62177279T>A	ENST00000474889.1	+	9	1547	c.1170T>A	c.(1168-1170)aaT>aaA	p.N390K	PTPRG_ENST00000295874.10_Missense_Mutation_p.N390K	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	390	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)		GGACCAAGAATGAGGACGAGA	0.532000													20	27					0	0	1	0	0
MAPK13	5603	broad.mit.edu	37	6	36103816	36103816	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:36103816C>T	ENST00000211287.4	+	5	700	c.438C>T	c.(436-438)gtC>gtT	p.V146V	MAPK13_ENST00000373759.1_Silent_p.V68V|MAPK13_ENST00000373766.5_Silent_p.V146V|MAPK13_ENST00000490334.1_3'UTR|MAPK13_ENST00000373761.6_Intron	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	146	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CTGCTGGGGTCGTGCACAGGG	0.582000													30	74					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123199776	123199776	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:123199776G>A	ENST00000371160.1	+	21	2366	c.2076G>A	c.(2074-2076)aaG>aaA	p.K692K	STAG2_ENST00000354548.5_Silent_p.K623K|STAG2_ENST00000371144.3_Silent_p.K692K|STAG2_ENST00000218089.9_Silent_p.K692K|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Silent_p.K692K|STAG2_ENST00000371157.3_Silent_p.K692K			Q8N3U4	STAG2_HUMAN	stromal antigen 2	692					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAACATTGAAGAGGATCACTG	0.308000													37	8					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179588871	179588871	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179588871C>T	ENST00000589042.1	-	73	21340		c.e73-1		TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000359218.5_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)			ACTGCTCGGTCTGTGTGAGGA	0.418000													9	28					0	0	1	0	0
CLEC10A	10462	broad.mit.edu	37	17	6982078	6982078	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:6982078C>T	ENST00000576617.1	-	2	323	c.54G>A	c.(52-54)caG>caA	p.Q18Q	CLEC10A_ENST00000571664.1_Silent_p.Q18Q|CLEC10A_ENST00000254868.4_Silent_p.Q18Q|CLEC10A_ENST00000416562.2_Silent_p.Q18Q			Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	18					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						TTTTAAACCCCTGGACTTTCA	0.448000													39	113					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501728	140501728	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140501728G>A	ENST00000194152.1	+	1	148	c.148G>A	c.(148-150)Gat>Aat	p.D50N		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		50	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.D50H(1)		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)			TCTGGCCAAGGATCTGGGCCT	0.542000													37	62					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54011359	54011359	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:54011359A>G	ENST00000373980.4	+	10	1523	c.1106A>G	c.(1105-1107)aAc>aGc	p.N369S	PRKG1_ENST00000401604.2_Missense_Mutation_p.N354S|PRKG1_ENST00000373975.2_Missense_Mutation_p.N72S|PRKG1_ENST00000373985.1_Missense_Mutation_p.N342S|PRKG1-AS1_ENST00000452247.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	354	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)		TTCTTCGCCAACCTGAAGCTG	0.418000													15	36					0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18242762	18242762	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:18242762C>T	ENST00000262811.5	+	14	1389	c.1389C>T	c.(1387-1389)ccC>ccT	p.P463P		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	463	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCCGCTGCCCGTGGACATGG	0.667000													9	8					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21053352	21053352	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:21053352G>A	ENST00000261383.3	-	32	4634	c.4635C>T	c.(4633-4635)ctC>ctT	p.L1545L	DNAH3_ENST00000415178.1_Silent_p.L1545L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1545	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)		CATTTACCTTGAGATTGTCGG	0.527000													33	47					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75960977	75960977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:75960977C>T	ENST00000274364.6	+	22	2953	c.2656C>T	c.(2656-2658)Cag>Tag	p.Q886*	IQGAP2_ENST00000396234.3_Nonsense_Mutation_p.Q382*|IQGAP2_ENST00000379730.3_Nonsense_Mutation_p.Q388*|IQGAP2_ENST00000502745.1_Nonsense_Mutation_p.Q382*	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	886					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)		AGAAACATATCAGCAGCTGTT	0.358000													31	54					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230971	7230971	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:7230971C>T	ENST00000379938.2	+	10	3176	c.2639C>T	c.(2638-2640)cCc>cTc	p.P880L	RREB1_ENST00000379933.3_Missense_Mutation_p.P880L|RREB1_ENST00000349384.6_Missense_Mutation_p.P880L|RREB1_ENST00000334984.6_Missense_Mutation_p.P880L	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	880	Poly-Pro.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCTCCACCTCCCCATGTCTCG	0.622000													5	85					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186006576	186006576	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:186006576G>A	ENST00000265022.3	-	6	1006	c.467C>T	c.(466-468)tCc>tTc	p.S156F	DGKG_ENST00000544847.1_Missense_Mutation_p.S156F|DGKG_ENST00000344484.4_Missense_Mutation_p.S156F|DGKG_ENST00000382164.4_Missense_Mutation_p.S156F	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	156	Poly-Ser.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TACCACTGGGGATTCCGAGCT	0.572000													27	140					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35644114	35644114	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:35644114G>A	ENST00000400445.3	+	9	1843	c.1309G>A	c.(1309-1311)Ggg>Agg	p.G437R	NBEA_ENST00000540320.1_Missense_Mutation_p.G437R|NBEA_ENST00000310336.4_Missense_Mutation_p.G437R|NBEA_ENST00000379939.2_Missense_Mutation_p.G437R	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	437						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)		GTTATATGATGGGAAACTTGC	0.358000													11	20					0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71571180	71571180	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:71571180C>T	ENST00000338482.5	+	3	943	c.600C>T	c.(598-600)atC>atT	p.I200I	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Silent_p.I200I|CHST4_ENST00000539698.3_Silent_p.I200I|RP11-510M2.9_ENST00000572693.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	200					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ACCTGCATATCGTGCACCTGG	0.607000													33	49					0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41304175	41304175	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:41304175G>A	ENST00000347132.5	+	14	2150	c.2068G>A	c.(2068-2070)Gtc>Atc	p.V690I	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.V636I	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	690					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CTCCCGCTCGGTCAGCACCAA	0.667000													51	53					0	0	1	0	0
DDAH2	23564	broad.mit.edu	37	6	31696511	31696511	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:31696511G>A	ENST00000375789.2	-	2	939	c.309C>T	c.(307-309)gtC>gtT	p.V103V	DDAH2_ENST00000480913.1_5'UTR|DDAH2_ENST00000375792.3_Silent_p.V103V|DDAH2_ENST00000375787.2_Silent_p.V103V			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	103					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	GGGCTTTGCGGACTCCATCGA	0.577000													10	29					0	0	1	0	0
TMED6	146456	broad.mit.edu	37	16	69381718	69381718	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:69381718T>C	ENST00000564737.1	-	3	438	c.439A>G	c.(439-441)Act>Gct	p.T147A	TMED6_ENST00000288025.3_Silent_p.Q154Q|RP11-343C2.9_ENST00000563634.1_Intron																							TATCATTCAGTTGTTTTCTTT	0.408000													94	118					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119926651	119926651	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:119926651G>A	ENST00000327554.2	+	5	1002	c.537G>A	c.(535-537)gtG>gtA	p.V179V	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	179										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)		TGAAGCCTGTGATCACCTGCT	0.547000													37	48					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187179265	187179265	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:187179265G>A	ENST00000264690.6	+	15	2003	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	KLKB1_ENST00000513864.1_3'UTR	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	606	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TGCCCGCAGGGAGCAACCTGG	0.517000													35	32					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31318739	31318739	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:31318739G>A	ENST00000269197.5	+	11	1371	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	457					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						TTGCAGAAGAGGTAGAGACTA	0.393000													55	35					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20269303	20269303	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:20269303C>T	ENST00000245957.5	+	23	2923	c.2847C>T	c.(2845-2847)gcC>gcT	p.A949A	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	949										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)		CGTTTAAAGCCCTCAATGATG	0.408000													92	118					0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275235	71275235	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:71275235C>T	ENST00000399575.2	+	3	364	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	64	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACTTTCTCTTCCCTTTGTCCC	0.498000													98	110					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068354	9068354	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9068354C>T	ENST00000397910.4	-	3	19295	c.19092G>A	c.(19090-19092)ctG>ctA	p.L6364L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6366	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						GTCTAAATATCAGGGAGAAAG	0.463000													19	38					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131688755	131688755	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:131688755G>A	ENST00000409359.1	+	3	3991	c.2793G>A	c.(2791-2793)caG>caA	p.Q931Q	ARHGEF4_ENST00000326016.5_Silent_p.Q75Q|ARHGEF4_ENST00000428230.2_Silent_p.Q75Q|ARHGEF4_ENST00000392953.3_Silent_p.Q75Q|ARHGEF4_ENST00000409303.1_Silent_p.Q75Q|ARHGEF4_ENST00000525839.1_Silent_p.Q75Q			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	75					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGAAGACACAGAGAAAGAAGT	0.597000													22	26					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150911442	150911442	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:150911442C>T	ENST00000474524.1	+	14	2172	c.2134C>T	c.(2134-2136)Cct>Tct	p.P712S	MED12L_ENST00000309237.4_Missense_Mutation_p.P747S|MED12L_ENST00000422248.2_Missense_Mutation_p.P712S|MED12L_ENST00000273432.4_Missense_Mutation_p.P572S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	712					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AACACATTTTCCTATACCTCT	0.338000													40	63					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056775	9056775	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9056775G>A	ENST00000397910.4	-	3	30874	c.30671C>T	c.(30670-30672)cCa>cTa	p.P10224L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10226	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						TATGTCCACTGGAATTTCAGT	0.458000													27	33					0	0	1	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89246925	89246925	+	RNA	SNP	G	G	A	rs11546116		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:89246925G>A	ENST00000496168.1	-	0	425																											GCTGAACCTTGATGGGACCCC	0.478000													24	64					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33457491	33457491	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:33457491C>T	ENST00000265112.3	+	9	1278	c.967C>T	c.(967-969)Cat>Tat	p.H323Y	TARS_ENST00000414361.2_Missense_Mutation_p.H202Y|TARS_ENST00000541634.1_Missense_Mutation_p.H219Y|TARS_ENST00000502553.1_Missense_Mutation_p.H323Y|TARS_ENST00000455217.2_Missense_Mutation_p.H356Y	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	323					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AAACCGAGATCATAGGAAAAT	0.378000													26	52					0	0	1	0	0
HBG2	3048	broad.mit.edu	37	11	5275619	5275619	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5275619C>T	ENST00000380259.2	-	7	1458	c.218G>A	c.(217-219)gGa>gAa	p.G73E	HBG2_ENST00000336906.4_Missense_Mutation_p.G73E|HBG2_ENST00000380252.1_Missense_Mutation_p.G63E					hemoglobin, gamma G									p.G73E(1)		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)		TATGGCATCTCCCAAGGAAGT	0.527000													63	208					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69127276	69127276	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	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													41	58					0	0	1	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97935801	97935801	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:97935801C>T	ENST00000005260.8	-	11	1406	c.1191G>A	c.(1189-1191)acG>acA	p.T397T		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	397	SH3.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGCAACTTCGTGTACGACG	0.567000													36	47					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111779729	111779729	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:111779729C>T	ENST00000261726.6	+	21	3685	c.3531C>T	c.(3529-3531)ccC>ccT	p.P1177P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1177						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGCTGGCACCCGAGGAGAAGG	0.652000													34	45					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23420749	23420749	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:23420749G>A	ENST00000302291.4	-	4	807	c.6C>T	c.(4-6)gcC>gcT	p.A2A	LUZP1_ENST00000374623.3_Silent_p.A2A|LUZP1_ENST00000418342.1_Silent_p.A2A|LUZP1_ENST00000314174.5_Silent_p.A2A			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	2						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTGTAAATTCGGCCATGTCTA	0.507000													24	7					0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162273369	162273369	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:162273369C>T	ENST00000389554.3	+	1	765	c.448C>T	c.(448-450)Ccg>Tcg	p.P150S		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	150						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GGCCCACCACCCGGTCATCAC	0.682000													64	89					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95694185	95694185	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:95694185C>T	ENST00000436874.1	+	12	2181	c.2076C>T	c.(2074-2076)taC>taT	p.Y692Y	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Silent_p.Y644Y	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	692						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GAATGTGTTACCAATGTGAGA	0.438000													21	35					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76805850	76805850	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:76805850C>T	ENST00000286719.7	-	8	999	c.643G>A	c.(643-645)Gat>Aat	p.D215N		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	215	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTACTGAATCCTTGCCTCGA	0.453000													106	131					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38647444	38647444	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:38647444C>T	ENST00000413689.1	-	10	1529	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	SCN5A_ENST00000451551.2_Missense_Mutation_p.E446K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E446K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E446K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E446K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E446K|SCN5A_ENST00000414099.2_Missense_Mutation_p.E446K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E446K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E446K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E446K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	446					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)	TCACCCACCTCGTGTTCTTTC	0.562000													20	17					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804623	54804623	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:54804623C>T	ENST00000306858.7	+	5	970	c.854C>T	c.(853-855)tCa>tTa	p.S285L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	285										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)					GTCCCTAGTTCATTTGCTCAG	0.443000													12	135					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18687434	18687434	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:18687434G>A	ENST00000406451.3	+	10	1203	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	HDAC9_ENST00000441542.2_Silent_p.Q354Q|HDAC9_ENST00000406072.1_Silent_p.Q338Q|HDAC9_ENST00000432645.2_Silent_p.Q351Q|HDAC9_ENST00000456174.2_Silent_p.Q323Q|HDAC9_ENST00000405010.3_Silent_p.Q351Q|HDAC9_ENST00000401921.1_Silent_p.Q310Q|HDAC9_ENST00000417496.2_Silent_p.Q349Q|HDAC9_ENST00000524023.1_Silent_p.Q274Q|HDAC9_ENST00000428307.2_Silent_p.Q307Q	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	351					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)	AAGAAAAGCAGAAGTGTGAGA	0.473000													6	7					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20651861	20651861	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:20651861G>A	ENST00000307493.4	-	7	1105	c.1038C>T	c.(1036-1038)gtC>gtT	p.V346V	ACSM1_ENST00000520010.1_Silent_p.V346V|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	346					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGGGCAACACGACCTCCCCGC	0.572000													16	25					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28491182	28491182	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:28491182G>A	ENST00000337532.5	-	4	332	c.56C>T	c.(55-57)gCt>gTt	p.A19V	MPP7_ENST00000540098.1_Missense_Mutation_p.A19V|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375719.3_Missense_Mutation_p.A19V|MPP7_ENST00000375732.1_Missense_Mutation_p.A19V|MPP7_ENST00000445954.2_Intron	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	19	L27 1.				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						TGGCAGAGCAGCCAACAGCTC	0.433000													31	47					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223465954	223465954	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:223465954G>A	ENST00000343846.3	-	2	821	c.188C>T	c.(187-189)cCc>cTc	p.P63L	SUSD4_ENST00000366878.4_Missense_Mutation_p.P63L|SUSD4_ENST00000344029.6_Missense_Mutation_p.P63L|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	63	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GCCATTCTCGGGAATGCCGGG	0.517000													54	35					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56906298	56906298	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:56906298C>T	ENST00000438926.2	+	7	917	c.888C>T	c.(886-888)tcC>tcT	p.S296S	SLC12A3_ENST00000566786.1_Silent_p.S295S|SLC12A3_ENST00000563236.1_Silent_p.S296S|SLC12A3_ENST00000262502.5_Silent_p.S295S	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	296					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCATGGTCTCCTTTGCCAACT	0.567000													13	31					0	0	1	0	0
TCF7	6932	broad.mit.edu	37	5	133451705	133451705	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:133451705C>T	ENST00000395029.1	+	3	617	c.422C>T	c.(421-423)cCc>cTc	p.P141L	TCF7_ENST00000520958.1_Missense_Mutation_p.P26L|TCF7_ENST00000321603.6_Missense_Mutation_p.P141L|TCF7_ENST00000432532.2_Missense_Mutation_p.P26L|TCF7_ENST00000378564.1_Missense_Mutation_p.P141L|TCF7_ENST00000518915.1_Missense_Mutation_p.P26L|TCF7_ENST00000395023.1_Missense_Mutation_p.P26L|TCF7_ENST00000342854.5_Missense_Mutation_p.P141L|TCF7_ENST00000321584.4_Missense_Mutation_p.P141L|TCF7_ENST00000378560.4_Missense_Mutation_p.P26L			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	141					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCAGCACCCCCAGCCGCAG	0.647000													6	13					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563369	8563369	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:8563369C>T	ENST00000423345.4	-	2	1843	c.1323G>A	c.(1321-1323)cgG>cgA	p.R441R	PRAM1_ENST00000255612.3_Silent_p.R441R			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	489	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						GCAGAGGCCTCCGCCGGGGTG	0.711000													5	12					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193159356	193159356	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:193159356C>T	ENST00000342695.4	-	20	2660	c.2338G>A	c.(2338-2340)Gat>Aat	p.D780N	ATP13A4_ENST00000392443.3_Missense_Mutation_p.D761N	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	780					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)		GAGACTTCATCCCTGATGTTA	0.373000													42	52					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151424252	151424252	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:151424252C>T	ENST00000370314.4	-	5	787	c.549G>A	c.(547-549)atG>atA	p.M183I	GABRA3_ENST00000370311.1_Missense_Mutation_p.M183I|GABRA3_ENST00000535043.1_Missense_Mutation_p.M183I	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	183					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			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTCTGACCTCATTGTATAGA	0.463000													62	13					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30735880	30735880	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:30735880C>T	ENST00000262518.4	+	25	5520	c.5135C>T	c.(5134-5136)cCa>cTa	p.P1712L	SRCAP_ENST00000344771.4_Missense_Mutation_p.P1554L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1650L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1712	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)			GGACCCTTTCCAACTCAGACA	0.562000													60	108					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692590	135692590	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:135692590G>A	ENST00000513104.1	-	2	768	c.486C>T	c.(484-486)tcC>tcT	p.S162S	TRPC7_ENST00000426057.2_Silent_p.S162S|TRPC7_ENST00000355180.3_Silent_p.S162S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	162					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)			TGATGTCGTGGGAGAAGCGCG	0.672000													58	89					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74396598	74396598	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:74396598T>C	ENST00000319380.7	-	7	992	c.928A>G	c.(928-930)Acc>Gcc	p.T310A		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	310							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						AAACTCTTGGTAATCCATGTA	0.577000													15	12					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3230735	3230735	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:3230735C>T	ENST00000355072.5	+	59	8253	c.8109_splice	c.e59+1	p.S2703_splice	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2703					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)		GTGGTCAGATCCGTAAGTGAG	0.597000													18	25					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60885991	60885991	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:60885991G>A	ENST00000252999.3	-	74	10314	c.10248C>T	c.(10246-10248)agC>agT	p.S3416S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3416	Laminin G-like 4.				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)	AGCGCTGGCGGCTCTGGGCGC	0.701000													14	14					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52710317	52710317	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:52710317C>G	ENST00000293670.3	-	6	1038	c.976G>C	c.(976-978)Gag>Cag	p.E326Q		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	326	Coil 2.|Rod.				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)		TCGTTGATCTCCTCCTTGGTG	0.597000													17	35					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114490282	114490282	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:114490282C>T	ENST00000394779.3	-	9	1400	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	C9orf84_ENST00000374287.3_Missense_Mutation_p.E425K|C9orf84_ENST00000394777.4_Missense_Mutation_p.E386K|C9orf84_ENST00000318737.4_Missense_Mutation_p.E425K	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	425										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						GTAGATTTTTCATCAATAAGT	0.338000													18	32					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99671110	99671110	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:99671110G>A	ENST00000336292.6	+	5	2662	c.2542G>A	c.(2542-2544)Gtg>Atg	p.V848M	SYNM_ENST00000560674.1_Missense_Mutation_p.V563M|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.V848M|RP11-6O2.4_ENST00000566974.1_RNA	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	849	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGACGGCTCGGTGTACGGGCA	0.567000													20	26					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11592972	11592972	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:11592972C>T	ENST00000262442.3	+	20	3901	c.3833C>T	c.(3832-3834)tCt>tTt	p.S1278F	DNAH9_ENST00000454412.2_Missense_Mutation_p.S1278F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1278	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)		ATTTCTGAGTCTGCCAGCTTA	0.502000													40	82					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170470973	170470973	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:170470973G>A	ENST00000260970.3	+	8	597		c.e8-1		PPIG_ENST00000448752.2_Splice_Site|PPIG_ENST00000409714.3_Splice_Site|PPIG_ENST00000462903.1_Splice_Site	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)						protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATTTCCAAAAGAACAACGAAA	0.244000													40	52					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732620	37732620	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:37732620G>A	ENST00000330843.4	-	3	1047	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S	RAB11FIP1_ENST00000287263.4_Silent_p.S345S|RAB11FIP1_ENST00000524118.1_Silent_p.S197S|RAB11FIP1_ENST00000522727.1_Silent_p.S197S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	345					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGCCCTTGGGGGATGGGGAGG	0.542000													101	174					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38905874	38905874	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:38905874G>A	ENST00000359357.3	+	76	11291	c.11037G>A	c.(11035-11037)gaG>gaA	p.E3679E	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Silent_p.E3896E|DNAH8_ENST00000441566.1_Silent_p.E3643E					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						CGGCTCAGGAGGAGTTCCGGC	0.517000													31	85					0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223225	35223225	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:35223225G>A	ENST00000338513.1	+	2	467	c.294G>A	c.(292-294)cgG>cgA	p.R98R		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	98					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)				TGGCCTACCGGGAGGTTCAGG	0.612000													57	46					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661564	22661564	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:22661564C>T	ENST00000426066.1	+	0	454					NR_027293.1																						TCAGACCATCCCGCTCTGTTA	0.453000													5	30					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981739	7981739	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:7981739G>A	ENST00000328600.2	-	2	1581	c.1420C>T	c.(1420-1422)Cat>Tat	p.H474Y		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	474	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACATGGCATGAAAAAAGTCC	0.532000													52	66					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49620811	49620811	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:49620811G>A	ENST00000371571.4	-	3	1592	c.1307C>T	c.(1306-1308)cCg>cTg	p.P436L	RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	436						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TACCTGGCCCGGGGTGCTCCT	0.642000													35	55					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140729876	140729876	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140729876C>T	ENST00000523390.1	+	1	49	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_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)			GGTACTGTTTCCCTTCCTGCT	0.512000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	13					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102835453	102835453	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:102835453G>A	ENST00000264257.2	+	7	891	c.765G>A	c.(763-765)aaG>aaA	p.K255K	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.K255K|IL1RL2_ENST00000441515.2_Silent_p.K137K	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	255	Ig-like C2-type 3.				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						CAGACACCAAGGATAATACAA	0.348000													30	44					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302151	128302151	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:128302151G>A	ENST00000262462.4	+	1	1331	c.321G>A	c.(319-321)acG>acA	p.T107T	SLC27A6_ENST00000395266.1_Silent_p.T107T|SLC27A6_ENST00000506176.1_Silent_p.T107T			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	107					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	p.T107T(1)		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)		AGGGGGACACGGTGGCTCTGC	0.542000													16	22					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551471	99551471	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:99551471G>A	ENST00000373034.4	-	6	4926	c.3251C>T	c.(3250-3252)aCc>aTc	p.T1084I	PCDH19_ENST00000255531.7_Missense_Mutation_p.T1037I|PCDH19_ENST00000420881.2_Missense_Mutation_p.T1036I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1084					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						CAGGGCAATGGTGTAAGACAC	0.592000													36	9					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90041520	90041520	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:90041520C>T	ENST00000405460.2	+	52	10978	c.10882C>T	c.(10882-10884)Ccc>Tcc	p.P3628S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3628					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)		ACTTAAAAATCCCAAAGGAGG	0.358000													22	34					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740427	37740427	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:37740427C>T	ENST00000539465.1	+	15	2495	c.1902C>T	c.(1900-1902)ggC>ggT	p.G634G	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Silent_p.G456G|FRMPD1_ENST00000541302.1_Silent_p.G503G|FRMPD1_ENST00000377765.3_Silent_p.G634G			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	634						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)		GCTCGCCAGGCCTCGCAGAGA	0.597000													18	31					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152651872	152651872	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:152651872G>A	ENST00000367255.5	-	78	14549	c.13948C>T	c.(13948-13950)Cga>Tga	p.R4650*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R4579*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R4397*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R4579*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R4650*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4650					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)		TTAAATTGTCGAGGCAAAGCA	0.408000										HNSCC(10;0.0054)			62	73					0	0	1	0	0
NBEAP1	606	broad.mit.edu	37	15	20874882	20874882	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:20874882C>T	ENST00000556948.1	-	0	366																											TCTTTAATAACTGTTCCTATT	0.333000													13	50					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123969945	123969945	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:123969945G>A	ENST00000369005.1	+	9	6345	c.6005G>A	c.(6004-6006)gGc>gAc	p.G2002D	TACC2_ENST00000513429.1_Missense_Mutation_p.G148D|TACC2_ENST00000515273.1_Missense_Mutation_p.G2006D|TACC2_ENST00000334433.3_Missense_Mutation_p.G2002D|TACC2_ENST00000368999.1_Missense_Mutation_p.G80D|TACC2_ENST00000358010.1_Missense_Mutation_p.G148D|TACC2_ENST00000260733.3_Missense_Mutation_p.G80D|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000515603.1_Missense_Mutation_p.G1957D|TACC2_ENST00000360561.3_Missense_Mutation_p.G80D|TACC2_ENST00000453444.2_Missense_Mutation_p.G2006D|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000369004.3_Missense_Mutation_p.G80D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2002	Pro-rich.					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)				GTCCCTGATGGCCCACGGAGC	0.572000													11	22					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13092489	13092489	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:13092489C>T	ENST00000506447.1	+	34	6297	c.6217C>T	c.(6217-6219)Ctt>Ttt	p.L2073F	CEP192_ENST00000430049.2_Missense_Mutation_p.L1598F|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Missense_Mutation_p.L1477F	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1668										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAGAGAATTCCTTCAGCCTTC	0.363000													40	37					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4842142	4842142	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:4842142G>A	ENST00000302640.8	+	53	7270	c.6920G>A	c.(6919-6921)tGg>tAg	p.W2307*	ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.W2259*|ITPR1_ENST00000443694.2_Nonsense_Mutation_p.W2307*|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.W2274*|ITPR1_ENST00000354582.6_Nonsense_Mutation_p.W2307*|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.W2274*	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2322					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGACTCCTGTGGACAGCCATG	0.537000													30	45					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41559171	41559171	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:41559171G>A	ENST00000400454.1	-	14	3143	c.2666C>T	c.(2665-2667)cCc>cTc	p.P889L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	889	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)				CTCAATTTCGGGAGGGTCTGG	0.478000													15	24					0	0	1	0	0
CYP39A1	51302	broad.mit.edu	37	6	46609933	46609933	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:46609933C>T	ENST00000275016.2	-	2	483	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	94					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						ACTGCTAGTTCAAAATCTACT	0.333000													18	63					0	0	1	0	0
SPATA4	132851	broad.mit.edu	37	4	177114714	177114714	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:177114714G>A	ENST00000280191.2	-	2	346	c.238C>T	c.(238-240)Cta>Tta	p.L80L	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	80					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		tctgcaattaggaagccattt	0.318000													26	26					0	0	1	0	0
FAM183B	340286	broad.mit.edu	37	7	38725520	38725520	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:38725520C>T	ENST00000409072.3	-	2	1020	c.86G>A	c.(85-87)cGa>cAa	p.R29Q						family with sequence similarity 183, member B									p.R29Q(4)		endometrium(1)|lung(7)	8						TTTCTGGGTTCGTAACTCTTT	0.542000													45	50					0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91433653	91433653	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:91433653G>A	ENST00000328850.3	+	10	1401	c.1259G>A	c.(1258-1260)aGg>aAg	p.R420K	FES_ENST00000450438.2_Missense_Mutation_p.R362K|FES_ENST00000448367.1_3'UTR|FES_ENST00000444422.2_Missense_Mutation_p.R420K|FES_ENST00000414248.2_Missense_Mutation_p.R362K|FES_ENST00000394302.1_Missense_Mutation_p.R362K|FES_ENST00000394300.3_Missense_Mutation_p.R362K	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	420					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GAGGGGGGAAGGACACCCACG	0.642000													16	27					0	0	1	0	0
ZNF519	162655	broad.mit.edu	37	18	14105516	14105516	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:14105516G>A	ENST00000590202.1	-	3	1175	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CTCCAGTATGGATTCTCTGAT	0.433000													41	125					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75157273	75157273	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:75157273G>A	ENST00000342232.4	-	4	1436	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	466					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)			CTTGCCTCAGGAGATCTTGGG	0.502000													53	83					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58206959	58206959	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:58206959G>A	ENST00000302572.2	-	1	687	c.666C>T	c.(664-666)acC>acT	p.T222T		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	222					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)				TCTTCATGATGGTGATAAATA	0.398000													34	39					0	0	1	0	0
SCML4	256380	broad.mit.edu	37	6	108070977	108070977	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:108070977G>A	ENST00000369022.2	-	2	232	c.23C>T	c.(22-24)cCt>cTt	p.P8L	SCML4_ENST00000369020.3_Missense_Mutation_p.P66L|SCML4_ENST00000369021.3_Missense_Mutation_p.P37L			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		ACTCCGCGGAGGTGAGAGGGC	0.587000													21	41					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106173589	106173589	+	RNA	SNP	C	C	T	rs71682321		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:106173589C>T	ENST00000390547.2	-	0	977																											CGATGGTCTTCTGTGTGAAGG	0.637000													12	18					0	0	1	0	0
OFCC1	266553	broad.mit.edu	37	6	9897203	9897203	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:9897203C>T	ENST00000316020.6	-	7	744	c.745G>A	c.(745-747)Gat>Aat	p.D249N	OFCC1_ENST00000472329.1_5'UTR					orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				ctcatctcatcctccatacaa	0.408000													17	28					0	0	1	0	0
YWHAEP7	284100	broad.mit.edu	37	17	36214821	36214821	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:36214821C>T	ENST00000590732.1	-	0	245					NR_024178.1																						AGAACATCGCCGCAGATTAAC	0.353000													16	7					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411667	126411667	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:126411667C>T	ENST00000394329.3	+	17	13703	c.13690C>T	c.(13690-13692)Ccc>Tcc	p.P4564S	FAT4_ENST00000335110.5_Missense_Mutation_p.P2805S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4564					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P4564S(1)|p.P4507S(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						CAATATCCCTCCCTATGGGGA	0.453000													47	64					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34125549	34125549	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:34125549C>T	ENST00000297161.2	+	14	1964	c.1590C>T	c.(1588-1590)tcC>tcT	p.S530S	BMPER_ENST00000426693.1_Silent_p.S530S	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	530	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						GGGTGGAGTCCAATGAGTTCT	0.473000													45	51					0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18751288	18751288	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:18751288G>A	ENST00000396170.1	-	13	2575	c.1311C>T	c.(1309-1311)ccC>ccT	p.P437P	RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396171.4_Silent_p.P469P|PTPN5_ENST00000358540.2_Silent_p.P469P|PTPN5_ENST00000396168.1_Silent_p.P445P|PTPN5_ENST00000396167.2_Silent_p.P437P|PTPN5_ENST00000477854.1_Silent_p.P273P|PTPN5_ENST00000396166.3_Silent_p.P75P	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	469	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GCAGGAGTGGGGGGGCCCGGT	0.672000													28	45					0	0	1	0	0
SCARB2	950	broad.mit.edu	37	4	77084453	77084453	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:77084453G>A	ENST00000264896.2	-	11	1672	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	SCARB2_ENST00000452464.2_Silent_p.I298I	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	441					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GCGCCATGATGATGTAGGGTA	0.453000													55	39					0	0	1	0	0
PRRG2	5639	broad.mit.edu	37	19	50086803	50086803	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:50086803C>T	ENST00000246794.5	+	3	259	c.90C>T	c.(88-90)gtC>gtT	p.V30V	PRRG2_ENST00000596700.1_Intron	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	30						extracellular region|integral to plasma membrane	calcium ion binding			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		GTCCAGAAGTCTTCCTGGGTC	0.592000													68	99					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4945296	4945296	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:4945296G>A	ENST00000345988.2	-	11	1297	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L	PPL_ENST00000590782.2_Missense_Mutation_p.P401L	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	403					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCCTCCACGGGGATGGGCTT	0.607000													8	39					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158592929	158592929	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158592929G>A	ENST00000368148.3	-	43	6144	c.5964C>T	c.(5962-5964)atC>atT	p.I1988I	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Silent_p.I1985I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1988					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)					TCAGGTCAGTGATCTCGGGAA	0.507000													358	204					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148384386	148384386	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:148384386G>A	ENST00000515425.1	-	17	3856	c.3755C>T	c.(3754-3756)aCc>aTc	p.T1252I	SH3TC2_ENST00000502274.1_Missense_Mutation_p.T114I|SH3TC2_ENST00000512049.1_Missense_Mutation_p.T1245I|SH3TC2_ENST00000538184.1_3'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1252							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)			GCTCCTAATGGTGTCCTGAAG	0.642000													18	32					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745415	140745415	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140745415C>T	ENST00000518069.1	+	1	1518	c.1518C>T	c.(1516-1518)tcC>tcT	p.S506S	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTATGTATCCATTAACTCTG	0.562000													109	128					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404214	20404214	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:20404214T>G	ENST00000285600.4	+	1	448	c.389T>G	c.(388-390)cTg>cGg	p.L130R		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGTAAGCCTCTGCACTACAGT	0.438000													38	108					0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17271484	17271484	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:17271484G>A	ENST00000544301.1	+	2	476	c.63G>A	c.(61-63)gcG>gcA	p.A21A	VIM_ENST00000485947.1_3'UTR|VIM_ENST00000224237.5_Silent_p.A21A|VIM-AS1_ENST00000605833.1_RNA	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	21	Head.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGGGCACCGCGAGCCGGCCGA	0.731000													6	8					0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10397803	10397803	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:10397803C>T	ENST00000393717.2	+	1	124	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	ICAM4_ENST00000380770.3_Missense_Mutation_p.L39F|ICAM4_ENST00000340992.4_Missense_Mutation_p.L39F|CTD-2369P2.8_ENST00000589379.1_RNA	NM_022377.3	NP_071772.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	39					cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GGGTAGCCCTCTCGCGCCCTC	0.662000													4	12					0	0	1	0	0
SKA1	220134	broad.mit.edu	37	18	47918471	47918471	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:47918471C>T	ENST00000285116.3	+	7	833	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	SKA1_ENST00000398452.2_Missense_Mutation_p.R208C|SKA1_ENST00000488454.1_Missense_Mutation_p.R57C|SKA1_ENST00000417656.2_Missense_Mutation_p.R162C	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	208					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						ATTTTTAGGTCGTTATTTTAT	0.328000													23	68					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100890493	100890493	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:100890493G>A	ENST00000343933.5	-	10	1387	c.1130C>T	c.(1129-1131)cCc>cTc	p.P377L	CORO2A_ENST00000375077.4_Missense_Mutation_p.P377L	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	377					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CGTCAGGGAGGGCTGGGCCCC	0.592000													87	103					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862351	14862351	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:14862351C>T	ENST00000285046.5	+	1	1883	c.1773C>T	c.(1771-1773)tcC>tcT	p.S591S	FGD5_ENST00000543601.1_Silent_p.S350S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	591					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						TAATTGGCTCCTCTGGGAGTT	0.557000													26	37					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82390042	82390042	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:82390042T>A	ENST00000333891.8	-	24	15538	c.15201A>T	c.(15199-15201)aaA>aaT	p.K5067N		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4990					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						CTCTTGTTTTTTTCTTGATCA	0.328000													26	35					0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139741747	139741747	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:139741747C>T	ENST00000230993.6	+	5	814	c.779C>T	c.(778-780)tCc>tTc	p.S260F	SLC4A9_ENST00000506545.1_Missense_Mutation_p.S236F|SLC4A9_ENST00000432095.2_Missense_Mutation_p.S236F|SLC4A9_ENST00000506757.2_Missense_Mutation_p.S236F|SLC4A9_ENST00000507527.1_Missense_Mutation_p.S260F	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	260						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)			ACTGAGGTGTCCCTCCCAAGC	0.597000													6	4					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79440614	79440614	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:79440614G>T	ENST00000264895.6	+	67	10959	c.10519G>T	c.(10519-10521)Gac>Tac	p.D3507Y		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3502					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						TTTCTTCTATGACACTGTTCT	0.478000													77	115					2.08937e-45	2.13261e-45	1	1	0
ACSM5	54988	broad.mit.edu	37	16	20423012	20423012	+	Splice_Site	SNP	T	T	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:20423012T>G	ENST00000331849.4	+	2	351		c.e2+2		ACSM5_ENST00000575584.1_Splice_Site	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5						fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTGGAAGAGGTGAAGCCTGTT	0.552000													19	27					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41573426	41573426	+	Missense_Mutation	SNP	A	A	C	rs140187237		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:41573426A>C	ENST00000263253.7	+	31	6930	c.5711A>C	c.(5710-5712)cAg>cCg	p.Q1904P	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1904					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	p.Q1904P(1)		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						GCAGCAGGCCAGGTGACCCCT	0.627000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				4	44					0	0	1	0	0
BPIFA1	51297	broad.mit.edu	37	20	31827711	31827711	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:31827711G>A	ENST00000354297.4	+	4	494	c.423G>A	c.(421-423)gtG>gtA	p.V141V	BPIFA1_ENST00000375422.2_Silent_p.V141V|BPIFA1_ENST00000375413.4_Silent_p.V141V	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	141					innate immune response	extracellular region	lipid binding										AGCTCCAAGTGAATACGTGAG	0.557000													64	81					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10942960	10942960	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:10942960G>A	ENST00000283141.6	+	23	2231	c.1935G>A	c.(1933-1935)ctG>ctA	p.L645L		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	645						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)			AACATAAGCTGAGAAACTTGG	0.323000													14	36					0	0	1	0	0
RNLS	55328	broad.mit.edu	37	10	90045123	90045123	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:90045123C>T	ENST00000331772.4	-	7	1039	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	RNLS_ENST00000371947.3_Intron|RNLS_ENST00000437752.1_Intron	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	339						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						AAATATAATTCTTTAAAGCTT	0.348000													23	29					0	0	1	0	0
MED27	9442	broad.mit.edu	37	9	134952890	134952890	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:134952890G>A	ENST00000292035.5	-	2	350	c.287C>T	c.(286-288)cCt>cTt	p.P96L	MED27_ENST00000474263.1_5'UTR|RP11-32B11.2_ENST00000444872.2_RNA|MED27_ENST00000372184.3_Missense_Mutation_p.P96L|MED27_ENST00000357028.2_Missense_Mutation_p.P58L	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	96					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		GTCCTGCACAGGATCCAGGCT	0.438000													63	79					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3742372	3742372	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:3742372G>A	ENST00000378230.3	-	18	2638	c.2314C>T	c.(2314-2316)Cac>Tac	p.H772Y		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	772						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTCCAGTAGTGGAGATCCAGA	0.488000													28	12					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6239109	6239109	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:6239109G>A	ENST00000265978.4	-	9	2107	c.1749C>T	c.(1747-1749)tgC>tgT	p.C583C	FAM160A2_ENST00000449352.2_Silent_p.C569C|FAM160A2_ENST00000524416.1_Silent_p.C569C	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	569					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCAGGTACGGCAGGCTCGGA	0.622000													32	31					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520934	175520934	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:175520934G>A	ENST00000454872.1	+	14	2459	c.2331G>A	c.(2329-2331)caG>caA	p.Q777Q		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	777					proteolysis	integral to membrane	peptidase activity	p.Q777H(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ATTCAGCTCAGGTTTACTTCA	0.403000													22	29					0	0	1	0	0
HDAC5	10014	broad.mit.edu	37	17	42165061	42165061	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:42165061G>A	ENST00000225983.6	-	13	1929	c.1606C>T	c.(1606-1608)Ctc>Ttc	p.L536F	HDAC5_ENST00000586802.1_Missense_Mutation_p.L535F|HDAC5_ENST00000336057.5_Missense_Mutation_p.L535F|HDAC5_ENST00000393622.2_Missense_Mutation_p.L535F			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	535					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	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)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GTCTTGGTGAGGATCTGATAA	0.602000													41	72					0	0	1	0	0
NUP88	4927	broad.mit.edu	37	17	5298237	5298237	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:5298237G>A	ENST00000573584.1	-	9	1865	c.1356C>T	c.(1354-1356)atC>atT	p.I452I		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	452					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TCGTACAAAGGATGTGTTCAA	0.388000													42	52					0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8538545	8538545	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:8538545C>T	ENST00000262648.3	-	7	1206	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	353	Fibronectin type-III 2.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CTCACCCCATCCGTAGTCTTT	0.498000													4	3					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27239712	27239712	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:27239712G>A	ENST00000577226.1	-	9	2223	c.1877C>T	c.(1876-1878)cCt>cTt	p.P626L	PHF12_ENST00000332830.4_Missense_Mutation_p.P626L|PHF12_ENST00000268756.3_Missense_Mutation_p.P626L|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	626	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GGGAATGGAAGGGGGCAGGCT	0.542000													35	55					0	0	1	0	0
SPOCK2	9806	broad.mit.edu	37	10	73827435	73827435	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:73827435G>T	ENST00000373109.2	-	7	1089	c.645C>A	c.(643-645)ttC>ttA	p.F215L	SPOCK2_ENST00000317376.4_Missense_Mutation_p.F215L|SPOCK2_ENST00000536168.1_Missense_Mutation_p.F215L|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	215					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAAGGAGCTGGAACCAGTCCC	0.622000													13	22					4.36969e-10	4.40799e-10	1	1	0
DSCAM	1826	broad.mit.edu	37	21	42064860	42064860	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:42064860G>A	ENST00000400454.1	-	3	861	c.384C>T	c.(382-384)gtC>gtT	p.V128V		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	128	Ig-like C2-type 1.|Ig-like C2-type 2.				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)				CCTCCACACGGACTGTATAGG	0.502000													38	35					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140953192	140953192	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140953192G>A	ENST00000253811.6	-	16	2365	c.2225C>T	c.(2224-2226)cCa>cTa	p.P742L	DIAPH1_ENST00000398557.4_Missense_Mutation_p.P742L|DIAPH1_ENST00000398562.2_Missense_Mutation_p.P721L|DIAPH1_ENST00000398566.3_Missense_Mutation_p.P733L|DIAPH1_ENST00000389057.5_Missense_Mutation_p.P733L|DIAPH1_ENST00000389054.3_Missense_Mutation_p.P742L|DIAPH1_ENST00000518047.1_Missense_Mutation_p.P733L|DIAPH1_ENST00000520569.1_Missense_Mutation_p.P688L			O60610	DIAP1_HUMAN	diaphanous-related formin 1	742	FH1.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTCCGGGTGGAGGTGGAGG	0.572000													16	26					0	0	1	0	0
AIFM3	150209	broad.mit.edu	37	22	21332267	21332267	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:21332267C>T	ENST00000399167.2	+	16	1690	c.1450C>T	c.(1450-1452)Cca>Tca	p.P484S	AIFM3_ENST00000440238.2_Missense_Mutation_p.P484S|AIFM3_ENST00000405089.1_Missense_Mutation_p.P490S|AIFM3_ENST00000333607.6_Missense_Mutation_p.P484S|AIFM3_ENST00000335375.5_Missense_Mutation_p.P472S|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Missense_Mutation_p.P484S	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGTGAACATTCCACATTGGCA	0.582000													18	10					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040462	107040462	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:107040462C>T	ENST00000409886.3	-	20	4048	c.3961G>A	c.(3961-3963)Gaa>Aaa	p.E1321K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1321K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1321					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ACATCAGATTCTTCATCAGTG	0.403000													77	136					0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108232564	108232564	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:108232564G>A	ENST00000369002.4	-	7	789	c.610C>T	c.(610-612)Ctt>Ttt	p.L204F		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	204	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		ACAACTGGAAGGATAACCATA	0.303000													17	34					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70098619	70098619	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:70098619C>T	ENST00000370598.1	+	32	5226	c.4405C>T	c.(4405-4407)Cca>Tca	p.P1469S	BAI3_ENST00000238918.8_Missense_Mutation_p.P675S|BAI3_ENST00000546190.1_Missense_Mutation_p.P433S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1469					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)				AAACAAGAATCCATGGGACAC	0.463000													18	22					0	0	1	0	0
RUNDC1	146923	broad.mit.edu	37	17	41143388	41143388	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:41143388C>T	ENST00000361677.1	+	5	1509	c.1497C>T	c.(1495-1497)tcC>tcT	p.S499S		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	499	RUN.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TCTCCCAGTCCTTCGCCCTTC	0.567000													34	56					0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30745606	30745606	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:30745606C>T	ENST00000217315.5	+	14	1628	c.1288C>T	c.(1288-1290)Ccc>Tcc	p.P430S	TM9SF4_ENST00000398022.2_Missense_Mutation_p.P447S			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	447						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGTGCCCTTTCCCACCATGGT	0.627000													55	74					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3293396	3293396	+	Silent	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:3293396A>G	ENST00000219596.1	-	10	2130	c.2091T>C	c.(2089-2091)aaT>aaC	p.N697N	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.N517N|MEFV_ENST00000536379.1_Silent_p.N486N	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	697	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCTGGTACTCATTTTCCTTCA	0.537000													50	79					0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664561	169664561	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:169664561G>A	ENST00000483289.2	-	0	2733				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						ATAGCTGGAGGGACCTCACTT	0.517000													12	15					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197402363	197402363	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:197402363G>A	ENST00000273582.5	-	20	3080	c.2535C>T	c.(2533-2535)atC>atT	p.I845I	KIAA0226_ENST00000296343.5_Silent_p.I890I	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	890					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)		AGAACTCACAGATGAAGCCTT	0.547000													74	99					0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72739294	72739294	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:72739294G>A	ENST00000340415.3	+	4	1261	c.252G>A	c.(250-252)cgG>cgA	p.R84R	RAB37_ENST00000528438.1_Silent_p.R64R|RAB37_ENST00000392612.3_Silent_p.R54R|RAB37_ENST00000392610.1_Silent_p.R91R|RAB37_ENST00000392614.4_Silent_p.R96R|RAB37_ENST00000392615.5_Silent_p.R59R|RAB37_ENST00000402449.4_Silent_p.R84R|RAB37_ENST00000392613.5_Silent_p.R91R	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	91					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						GGCAGGAACGGTTCCGAAGCG	0.607000													49	74					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93023266	93023266	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:93023266G>A	ENST00000523629.1	-	5	976	c.522C>T	c.(520-522)aaC>aaT	p.N174N	RUNX1T1_ENST00000521553.1_Silent_p.N137N|RUNX1T1_ENST00000518844.1_Silent_p.N147N|RUNX1T1_ENST00000520724.1_Silent_p.N137N|RUNX1T1_ENST00000422361.2_Silent_p.N137N|RUNX1T1_ENST00000396218.1_Silent_p.N147N|RUNX1T1_ENST00000360348.2_Silent_p.N137N|RUNX1T1_ENST00000436581.2_Silent_p.N185N|RUNX1T1_ENST00000265814.3_Silent_p.N174N	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)	174	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)			TCAGTGGGAAGTTAGTAGCTT	0.348000													30	48					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774643	100774643	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:100774643C>T	ENST00000323346.5	+	2	579	c.266C>T	c.(265-267)tCc>tTc	p.S89F	SLC17A8_ENST00000392989.3_Missense_Mutation_p.S89F	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	89					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						TTCTGCATTTCCTTTGGGATC	0.517000													56	51					0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41298774	41298774	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:41298774C>T	ENST00000347132.5	+	11	1684	c.1602C>T	c.(1600-1602)atC>atT	p.I534I	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Silent_p.I480I	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	534					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			AGACAGTCATCCGCTCCATCA	0.597000													16	41					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459984	107459984	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:107459984G>A	ENST00000409382.3	-	2	1060	c.450C>T	c.(448-450)ttC>ttT	p.F150F	ST6GAL2_ENST00000361686.4_Silent_p.F150F|ST6GAL2_ENST00000409087.3_Silent_p.F150F	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	150					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.F150L(1)		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						CGGGGGAAGGGAATCCCAATG	0.612000													59	106					0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005509	1005509	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:1005509G>A	ENST00000234389.3	+	3	2028	c.2009G>A	c.(2008-2010)gGg>gAg	p.G670E		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	670					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GTCATGGTCGGGGACAAGACC	0.701000													22	38					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101493471	101493471	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:101493471G>A	ENST00000392979.3	+	21	2378	c.2017G>A	c.(2017-2019)Gga>Aga	p.G673R	ANO4_ENST00000392977.3_Missense_Mutation_p.G708R|ANO4_ENST00000299222.9_Missense_Mutation_p.G228R|ANO4_ENST00000550015.1_Missense_Mutation_p.G228R	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	708						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						GAATGCCTATGGACTCTTCGA	0.333000										HNSCC(74;0.22)			40	37					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15740024	15740024	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:15740024C>T	ENST00000441682.2	+	0	1480							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						GGCAGAAGTTCGCGATGGCAG	0.657000													6	10					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7548908	7548908	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:7548908G>A	ENST00000313599.3	-	8	1890	c.1833C>T	c.(1831-1833)ggC>ggT	p.G611G	CD163L1_ENST00000396630.1_Silent_p.G611G|CD163L1_ENST00000416109.2_Silent_p.G621G			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	611	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						TACTGTTCCAGCCGTCATCAC	0.557000													20	28					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26225006	26225006	+	Missense_Mutation	SNP	A	A	G	rs145954023		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:26225006A>G	ENST00000056233.3	+	4	1947	c.1688A>G	c.(1687-1689)aAt>aGt	p.N563S		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	563					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GATTCTTTCAATAGCATGTTA	0.413000													45	56					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106124613	106124613	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:106124613G>A	ENST00000369704.3	+	4	697	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	188										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAAACAGAGCGATCAAAAGAG	0.473000													18	37					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62177280	62177280	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:62177280G>A	ENST00000474889.1	+	9	1548	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	PTPRG_ENST00000295874.10_Missense_Mutation_p.E391K	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	391	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)		GACCAAGAATGAGGACGAGAA	0.532000													20	27					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96798741	96798741	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:96798741G>A	ENST00000371270.3	-	8	1298	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S	CYP2C8_ENST00000535898.1_Missense_Mutation_p.P300S	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	402					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)	TTTGGATTAGGAAATTCTTTG	0.373000													30	49					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87031693	87031693	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:87031693G>A	ENST00000370563.3	+	6	986	c.944G>A	c.(943-945)gGa>gAa	p.G315E	CLCA4_ENST00000263723.5_Missense_Mutation_p.G28E	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	315	VWFA.					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)		GATAAGTCTGGAAGCATGGGG	0.413000													69	38					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038586	62038586	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:62038586C>T	ENST00000354587.3	-	17	2230	c.2054G>A	c.(2053-2055)cGg>cAg	p.R685Q	KCNQ2_ENST00000360480.3_Missense_Mutation_p.R649Q|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R685Q|KCNQ2_ENST00000344462.3_Missense_Mutation_p.R673Q|KCNQ2_ENST00000430658.1_Missense_Mutation_p.R646Q|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R677Q|KCNQ2_ENST00000370226.1_Missense_Mutation_p.R647Q|KCNQ2_ENST00000359125.2_Missense_Mutation_p.R677Q|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R659Q			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	677					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)	GACATGCTCCCGGCTGTCTTC	0.682000													18	18					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533752	55533752	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:55533752C>T	ENST00000220676.1	+	2	374	c.226C>T	c.(226-228)Ctc>Ttc	p.L76F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	76	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAGGTGCCCCTCCCTTTTGG	0.612000													60	69					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299885	62299885	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:62299885G>A	ENST00000378024.4	-	5	2278	c.2004C>T	c.(2002-2004)gcC>gcT	p.A668A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	668					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)				TGACATCTGGGGCTTCCACAT	0.502000													81	90					0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4349375	4349375	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:4349375C>T	ENST00000355530.2	+	4	715	c.435C>T	c.(433-435)atC>atT	p.I145I	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Silent_p.I18I	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	145					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CCCGGGGCATCGTGGGCACTG	0.637000													24	34					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142658926	142658926	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:142658926C>T	ENST00000355265.2	-	2	511	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	13					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.E13K(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGCTGCGTTCCCTCGGCTCT	0.547000													88	159					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227533	38227533	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:38227533C>T	ENST00000373048.4	-	3	393	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	EPHA10_ENST00000319637.6_Missense_Mutation_p.E132K|EPHA10_ENST00000427468.2_Missense_Mutation_p.E132K	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	132						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)				GCCTCAGTTTCCAGGTAGTAG	0.657000													82	63					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21080785	21080785	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:21080785C>T	ENST00000261383.3	-	23	3331	c.3332G>A	c.(3331-3333)aGg>aAg	p.R1111K	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1111K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1111	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)		GCCAAATTTCCTCCCCTCTTC	0.433000													45	78					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36322216	36322216	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:36322216C>T	ENST00000378910.5	-	26	3368	c.3369G>A	c.(3367-3369)cgG>cgA	p.R1123R	NPHS1_ENST00000353632.6_Silent_p.R1083R	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1123					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)			TCTGAGTGTCCCGCTCTCCTG	0.607000													53	52					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186006575	186006575	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:186006575G>A	ENST00000265022.3	-	6	1007	c.468C>T	c.(466-468)tcC>tcT	p.S156S	DGKG_ENST00000544847.1_Silent_p.S156S|DGKG_ENST00000344484.4_Silent_p.S156S|DGKG_ENST00000382164.4_Silent_p.S156S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	156	Poly-Ser.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ATACCACTGGGGATTCCGAGC	0.577000													26	140					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733170	52733170	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:52733170G>A	ENST00000360540.5	-	7	1221	c.815C>T	c.(814-816)gCt>gTt	p.A272V	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.A196V|PCMTD1_ENST00000522514.1_Missense_Mutation_p.A272V	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	272						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)				TTTGGGTGGAGCCCTTTGAGG	0.423000													9	170					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883146	228883146	+	Silent	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:228883146G>T	ENST00000392056.3	-	7	2470	c.2424C>A	c.(2422-2424)ccC>ccA	p.P808P	SPHKAP_ENST00000344657.5_Silent_p.P808P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	808						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)		ACTGCAGCGTGGGGTTCTTGA	0.463000													38	128					8.69298e-16	8.83046e-16	1	1	0
VCAN	1462	broad.mit.edu	37	5	82815665	82815665	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:82815665C>T	ENST00000265077.3	+	7	2105	c.1540C>T	c.(1540-1542)Cct>Tct	p.P514S	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.P514S|VCAN_ENST00000512590.2_Missense_Mutation_p.P466S|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	514	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)		CAAGGAATTCCCTGTAACTGA	0.378000													73	86					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145161881	145161881	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:145161881G>A	ENST00000367545.3	+	72	10183	c.10183G>A	c.(10183-10185)Gag>Aag	p.E3395K	UTRN_ENST00000367526.4_Missense_Mutation_p.E950K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3395					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)		CACAGCGGGAGAGGACCTGCT	0.502000													27	22					0	0	1	0	0
GSG1L	146395	broad.mit.edu	37	16	27802764	27802764	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:27802764G>A	ENST00000380898.2	-	8	1061	c.512C>T	c.(511-513)tCc>tTc	p.S171F	GSG1L_ENST00000380897.3_Missense_Mutation_p.S153F|GSG1L_ENST00000447459.2_Missense_Mutation_p.S308F|GSG1L_ENST00000569166.1_Missense_Mutation_p.S171F|GSG1L_ENST00000395724.3_Missense_Mutation_p.S257F			Q6UXU4	GSG1L_HUMAN	GSG1-like	308						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CCGGGGCCAGGAATCCGCCAT	0.652000													10	20					0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19153641	19153641	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:19153641C>T	ENST00000535612.1	+	3	583	c.151C>T	c.(151-153)Cca>Tca	p.P51S	ARMC6_ENST00000392336.3_Missense_Mutation_p.P51S|ARMC6_ENST00000392335.2_Missense_Mutation_p.P26S|ARMC6_ENST00000269932.6_Missense_Mutation_p.P26S|ARMC6_ENST00000546344.1_Intron	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	51							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			TGCGATGGGGCCAGAGGAGGC	0.557000													22	48					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4856811	4856811	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:4856811G>A	ENST00000302640.8	+	58	8081	c.7731G>A	c.(7729-7731)ctG>ctA	p.L2577L	AC018816.3_ENST00000441894.1_Intron|AC018816.3_ENST00000489771.1_Intron|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000544951.1_Silent_p.L555L|ITPR1_ENST00000456211.2_Silent_p.L2529L|ITPR1_ENST00000443694.2_Silent_p.L2577L|ITPR1_ENST00000423119.2_Silent_p.L2544L|ITPR1_ENST00000354582.6_Silent_p.L2577L|ITPR1_ENST00000357086.4_Silent_p.L2544L	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2592					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TTCTTAACCTGATTTTTGGGG	0.433000													38	67					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767673	77767673	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:77767673C>T	ENST00000521891.2	+	10	8964	c.8516C>T	c.(8515-8517)cCc>cTc	p.P2839L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2813L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2794L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2794L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2794						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)			GCTTTGTCTCCCAAAGAGCCA	0.498000										HNSCC(33;0.089)			14	32					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22942286	22942286	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:22942286C>T	ENST00000397104.3	-	4	487	c.488G>A	c.(487-489)gGa>gAa	p.G163E	ZNF99_ENST00000596209.1_Missense_Mutation_p.G142E					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)				AAATATTTTTCCCTGGGTAGT	0.284000													14	25					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7736216	7736216	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:7736216G>A	ENST00000572933.1	+	84	14408	c.12948G>A	c.(12946-12948)gtG>gtA	p.V4316V	DNAH2_ENST00000389173.2_Silent_p.V4316V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4316					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)				TTTCCACTGTGGATGACAGCA	0.512000													101	147					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166847802	166847802	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:166847802C>T	ENST00000423058.2	-	26	6000	c.5983G>A	c.(5983-5985)Gaa>Aaa	p.E1995K	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E1967K|SCN1A_ENST00000375405.3_Missense_Mutation_p.E1984K|SCN1A_ENST00000303395.4_Missense_Mutation_p.E1995K	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1995						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)	TCATGTTTTTCCACAATTGGC	0.368000													18	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179569660	179569660	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179569660C>T	ENST00000589042.1	-	104	29862	c.29638G>A	c.(29638-29640)Gaa>Aaa	p.E9880K	TTN_ENST00000591111.1_Missense_Mutation_p.E9563K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E8636K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9563	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)			AATTCCTTTTCGTCCCTCTCT	0.328000													62	63					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10429162	10429162	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:10429162C>T	ENST00000245503.5	-	31	4603	c.4219G>A	c.(4219-4221)Gag>Aag	p.E1407K	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E1407K|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1407					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						ACATGTTCCTCAGCTGCCTGC	0.483000													24	40					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76908122	76908122	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:76908122G>A	ENST00000285871.4	+	12	1621	c.1494G>A	c.(1492-1494)agG>agA	p.R498R	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Silent_p.R212R	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	498										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)				TTGAAATCAGGATACACAAGA	0.299000													12	16					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19673952	19673952	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:19673952C>T	ENST00000328041.6	+	13	1571	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	458						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						CGCTGAGTTTCGTCTTATACT	0.458000											OREG0025804	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	32					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29848706	29848706	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:29848706G>A	ENST00000399218.4	-	6	1811	c.1756C>T	c.(1756-1758)Cct>Tct	p.P586S	GAREM_ENST00000269209.6_Missense_Mutation_p.P587S	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		CTTTCAGAAGGATTTGTGTCA	0.408000													74	45					0	0	1	0	0
C1orf192	257177	broad.mit.edu	37	1	161336031	161336031	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:161336031G>C	ENST00000367974.1	-	3	133	c.128C>G	c.(127-129)gCc>gGc	p.A43G		NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	43										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACGATCGTTGGCAATAATTTG	0.448000													14	74					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139175272	139175272	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:139175272C>T	ENST00000423192.1	+	9	1340	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	ECT2L_ENST00000541398.1_Silent_p.F324F|ECT2L_ENST00000367682.2_Silent_p.F393F|ECT2L_ENST00000495970.1_3'UTR			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	393					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGGACTTCTTCGTGCCCCTTG	0.473000			"""N, Splice, Mis"""		ETP ALL								113	112					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454643	84454643	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:84454643G>A	ENST00000377084.2	-	1	1885	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	334	LRRNT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTAGCTAAGGGTTTGTTCCTG	0.547000													47	67					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114823575	114823575	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:114823575C>T	ENST00000315366.7	-	2	2521	c.1655G>A	c.(1654-1656)gGa>gAa	p.G552E	ARSJ_ENST00000541197.1_Missense_Mutation_p.G552E	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	552						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)		ATACCATGGTCCCCAGACCCC	0.458000													22	20					0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71646654	71646654	+	Missense_Mutation	SNP	G	G	A	rs114543585	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:71646654G>A	ENST00000408926.3	+	5	1651	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.E373K	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	373						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)			TTTCCTAATGGAATAAGCTAT	0.303000													9	24					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34924274	34924274	+	Missense_Mutation	SNP	C	C	T	rs139074520		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:34924274C>T	ENST00000356577.4	+	3	3212	c.2737C>T	c.(2737-2739)Ccc>Tcc	p.P913S	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.P913S|SON_ENST00000381679.4_Missense_Mutation_p.P913S|SON_ENST00000290239.6_Missense_Mutation_p.P913S	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	913	11 X 7 AA tandem repeats of [DR]-P-Y-R- [LI][AG][QHP].				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	p.P913S(1)		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						ATCTCCTGATCCCTATAGGTT	0.473000													47	52					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81719572	81719572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:81719572G>A	ENST00000550584.2	-	21	2921	c.2626C>T	c.(2626-2628)Cga>Tga	p.R876*	PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R876*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R802*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.R876*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R723*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R443*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R858*|PPFIA2_ENST00000541017.1_Nonsense_Mutation_p.R93*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R876*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R777*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R858*|PPFIA2_ENST00000545296.2_Intron	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	802								p.R876*(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						TTTAGTCTTCGATCCTTCTCA	0.393000													9	17					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796158	62796158	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:62796158G>A	ENST00000582986.1	-	0	1762					NR_024386.1																						CTTTCTCCATGGGGATGGCCA	0.627000													9	17					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1480225	1480225	+	Splice_Site	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:1480225A>G	ENST00000297508.7	-	8	1981		c.e8+1		MICALL2_ENST00000405088.4_Splice_Site	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2							cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCCATCCCTAACCTCTCAGCT	0.587000													10	31					0	0	1	0	0
GOSR2	9570	broad.mit.edu	37	17	45012442	45012442	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:45012442C>T	ENST00000415811.2	+	5	439	c.384C>T	c.(382-384)tcC>tcT	p.S128S	GOSR2_ENST00000576910.2_Intron|GOSR2_ENST00000225567.4_Silent_p.S128S|GOSR2_ENST00000393456.2_Silent_p.S128S|GOSR2_ENST00000439730.2_Silent_p.S128S|RP11-156P1.2_ENST00000571841.1_Silent_p.S128S	NM_001012511.1	NP_001012529.1	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	128					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)			AGTTTAACTCCTCCCTCCAGA	0.463000													49	76					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767140	77767140	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:77767140G>A	ENST00000521891.2	+	10	8431	c.7983G>A	c.(7981-7983)agG>agA	p.R2661R	ZFHX4_ENST00000518282.1_Silent_p.R2635R|ZFHX4_ENST00000050961.6_Silent_p.R2616R|ZFHX4_ENST00000455469.2_Silent_p.R2616R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2616						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)			CGCGGGAGAGGAAAGGCCAGT	0.527000										HNSCC(33;0.089)			35	46					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769354	247769354	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:247769354C>T	ENST00000320002.2	+	1	499	c.467C>T	c.(466-468)tCc>tTc	p.S156F	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	156					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)			TTGGCTAGTTCCCTAATCCAT	0.478000													104	77					0	0	1	0	0
FAM222B	55731	broad.mit.edu	37	17	27086421	27086421	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:27086421G>A	ENST00000341217.5	-	3	771	c.556C>T	c.(556-558)Cac>Tac	p.H186Y	FAM222B_ENST00000583953.1_3'UTR|FAM222B_ENST00000582059.1_3'UTR|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000581407.1_Missense_Mutation_p.H186Y|FAM222B_ENST00000452648.3_Missense_Mutation_p.H186Y	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN	family with sequence similarity 222, member B	186	Gln-rich.																CTCTGAGGGTGGGACAGTGCC	0.706000													4	8					0	0	1	0	0
LMF1	64788	broad.mit.edu	37	16	1020924	1020924	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:1020924C>T	ENST00000262301.11	-	1	75	c.57G>A	c.(55-57)aaG>aaA	p.K19K	LMF1_ENST00000399843.2_Silent_p.K19K|LMF1_ENST00000539379.1_Silent_p.K12K|LMF1_ENST00000543238.1_5'UTR	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	19						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				AGTACCCAGTCTTCCGCCTCC	0.736000													6	6					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10400485	10400485	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:10400485C>T	ENST00000226207.5	-	33	4651	c.4557G>A	c.(4555-4557)caG>caA	p.Q1519Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1519						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						CTTCTGCAATCTGTTCAGTGA	0.363000													15	28					0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56145039	56145039	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:56145039C>T	ENST00000394555.2	-	4	713	c.278G>A	c.(277-279)gGa>gAa	p.G93E	EFEMP1_ENST00000355426.3_Missense_Mutation_p.G93E|EFEMP1_ENST00000394554.1_Missense_Mutation_p.G93E|EFEMP1_ENST00000424836.2_Missense_Mutation_p.G35E	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	93					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CCCTGAGGTTCCTTCTGCTGG	0.547000													50	71					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480108	73480108	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:73480108G>A	ENST00000523207.1	+	2	727	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	47					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)			CCTCAACCACGAAGTCCTGTG	0.567000													48	56					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111408297	111408297	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	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													6	47					0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134217804	134217804	+	Missense_Mutation	SNP	G	G	A	rs148486050		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:134217804G>A	ENST00000359579.4	+	4	720	c.400G>A	c.(400-402)Gga>Aga	p.G134R	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	134					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	p.G134R(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TGCCATCGGTGGAAAAGCAAC	0.453000													49	67					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135428366	135428366	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:135428366G>A	ENST00000394143.1	+	6	2792	c.2501G>A	c.(2500-2502)aGa>aAa	p.R834K	GPR112_ENST00000370652.1_Missense_Mutation_p.R834K|GPR112_ENST00000287534.4_Missense_Mutation_p.R771K|GPR112_ENST00000412101.1_Missense_Mutation_p.R629K|GPR112_ENST00000394141.1_Missense_Mutation_p.R629K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	834					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)					ACAACACAAAGATTAAATGCC	0.398000													79	14					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179393407	179393407	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179393407C>T	ENST00000589042.1	-	360	107295	c.107071G>A	c.(107071-107073)Gat>Aat	p.D35691N	TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D34050N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D26626N|TTN_ENST00000342175.6_Missense_Mutation_p.D26818N|TTN_ENST00000342992.6_Missense_Mutation_p.D33123N|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26751N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589434.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34050							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)			AGTGTCAAATCATACTGACAC	0.428000													11	14					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94502711	94502711	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:94502711G>A	ENST00000370225.3	-	25	3889	c.3803C>T	c.(3802-3804)cCc>cTc	p.P1268L		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1268					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)		CTCTTCCAGGGGAGTGTCAGA	0.448000													44	109					0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551324	100551324	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:100551324C>T	ENST00000397112.4	-	0	1874					NR_036632.1															large_intestine(1)|lung(3)	4						TCTCCATGGCCCCCTGCAGGG	0.612000													10	59					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62468495	62468495	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:62468495G>A	ENST00000541428.1	-	19	1597	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	ASPH_ENST00000379454.4_Silent_p.I508I	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	508					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)	TTAAATATGGGATGCTCTCAG	0.413000													11	19					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22028628	22028628	+	Silent	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:22028628A>G	ENST00000261200.4	-	15	2051	c.2052T>C	c.(2050-2052)ggT>ggC	p.G684G	ABCC9_ENST00000261201.4_Silent_p.G684G|ABCC9_ENST00000345162.2_Silent_p.G648G|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	684	ABC transporter 1.				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)	ATGTAGCTAAACCACTGCCCC	0.284000													32	40					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749087	79749087	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:79749087C>T	ENST00000305428.3	+	2	673	c.598C>T	c.(598-600)Ccg>Tcg	p.P200S		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	200						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGCCCTGGCTCCGTACTCTGT	0.567000													42	48					0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68021761	68021761	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:68021761C>T	ENST00000412757.2	-	11	1865	c.1200G>A	c.(1198-1200)gtG>gtA	p.V400V	DPEP2_ENST00000393847.1_Silent_p.V400V|DPEP2_ENST00000572888.1_Silent_p.V400V			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	400					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GTACCTTTTCCACTTGTCTGA	0.562000													67	125					0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45568118	45568118	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:45568118G>A	ENST00000256692.5	-	0	567					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGCTGAACAAGGAGGTCACAG	0.413000													73	114					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769251	247769251	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:247769251C>T	ENST00000320002.2	+	1	396	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	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	122					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)			GGCCTTGGATCGGTACATTGC	0.507000													169	120					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526787	84526787	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:84526787G>A	ENST00000360700.4	+	10	3263	c.2377G>A	c.(2377-2379)Gaa>Aaa	p.E793K	ZNF711_ENST00000542798.1_Missense_Mutation_p.E589K|ZNF711_ENST00000395402.1_Missense_Mutation_p.E755K|ZNF711_ENST00000373165.3_Missense_Mutation_p.E747K|ZNF711_ENST00000276123.3_Missense_Mutation_p.E747K			Q9Y462	ZN711_HUMAN	zinc finger protein 711	747					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						AAGACCATCAGAAAAAAATCA	0.363000													36	7					0	0	1	0	0
TRBV7-4	28594	broad.mit.edu	37	7	142176776	142176776	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:142176776G>A	ENST00000390369.2	-	0	14																											CCCAGCAGAGGAGCCTGGTGC	0.542000													36	32					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54147467	54147467	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:54147467C>T	ENST00000265572.3	-	3	759	c.462G>A	c.(460-462)gtG>gtA	p.V154V	OPRK1_ENST00000524278.1_Silent_p.V65V|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.V154V	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	154					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)	TGTAGCGGTCCACGCTCATCA	0.488000													35	49					0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73280166	73280166	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:73280166G>A	ENST00000320531.2	+	3	797	c.761G>A	c.(760-762)gGa>gAa	p.G254E		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	254						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TCAGAGTCTGGAACAGTTTTG	0.567000													65	102					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80726295	80726295	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:80726295G>A	ENST00000355528.4	+	5	565		c.e5-1		TBCD_ENST00000397466.2_Splice_Site|TBCD_ENST00000539345.2_Splice_Site	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D						'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TAATTTTTTAGGCTTGGGAAA	0.517000													97	147					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	5984130	5984130	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:5984130C>T	ENST00000574946.1	+	2	542	c.152C>T	c.(151-153)cCc>cTc	p.P51L	WSCD1_ENST00000317744.5_Missense_Mutation_p.P51L|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000539421.1_Missense_Mutation_p.P51L|WSCD1_ENST00000574232.1_Missense_Mutation_p.P51L			Q658N2	WSCD1_HUMAN	WSC domain containing 1	51						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						GCACCCGGCCCCCTGCAGACC	0.711000													6	14					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63720615	63720615	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:63720615G>A	ENST00000421025.1	+	3	325	c.56G>A	c.(55-57)aGa>aAa	p.R19K	ZNF679_ENST00000255746.4_Missense_Mutation_p.R19K	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	19	KRAB.				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						TTGACATTCAGAGATGTAGTC	0.388000													35	52					0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104133389	104133389	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:104133389G>A	ENST00000259407.2	-	2	406	c.298C>T	c.(298-300)Cct>Tct	p.P100S	BAAT_ENST00000395051.3_Missense_Mutation_p.P100S	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	100					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	ACCTGGAAAGGCCTATTCATC	0.433000													46	55					0	0	1	0	0
HMSD	284293	broad.mit.edu	37	18	61621669	61621669	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:61621669G>A	ENST00000408945.3	+	3	302	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	HMSD_ENST00000481726.1_3'UTR	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	34						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						AATCGGAGGTGAAGATGGAGA	0.353000													50	109					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39507906	39507906	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:39507906G>A	ENST00000287152.7	-	13	1612	c.1518C>T	c.(1516-1518)tcC>tcT	p.S506S	KIF6_ENST00000373216.3_Silent_p.S506S|KIF6_ENST00000373215.3_Silent_p.S506S|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373213.4_Silent_p.S345S	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	506					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						GTGGGCTCTGGGACTGTCTGA	0.483000													81	213					0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160719796	160719796	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:160719796G>A	ENST00000368043.3	+	3	599	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000359331.4_Missense_Mutation_p.E188K|SLAMF7_ENST00000458602.2_Missense_Mutation_p.E81K|SLAMF7_ENST00000458104.2_Missense_Mutation_p.E81K|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000368042.3_Missense_Mutation_p.E81K	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	188	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)			GAGATGGGGAGAAAGTGATAT	0.537000													47	120					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162870933	162870933	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:162870933G>A	ENST00000360534.3	-	19	2170	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	537					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ATATTTCTTGGATTTATCAAA	0.303000													26	43					0	0	1	0	0
MIR518D	574489	broad.mit.edu	37	19	54238155	54238155	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:54238155G>A	ENST00000385014.1	+	0	25					NR_030211.1																						CCTCTAGAGGGAAGCACTTTC	0.418000													48	51					0	0	1	0	0
C9orf41	138199	broad.mit.edu	37	9	77631222	77631222	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:77631222G>A	ENST00000376834.3	-	3	704	c.552C>T	c.(550-552)atC>atT	p.I184I	C9orf41_ENST00000376837.3_Silent_p.I184I	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	184										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						TTTCTTTAATGATTGGCTGGT	0.338000													45	76					0	0	1	0	0
GLIS2	84662	broad.mit.edu	37	16	4383380	4383380	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:4383380G>A	ENST00000262366.3	+	4	1026	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.V69M			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	69	Interaction with CTNND1 (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCCCGAGAAGGTGGAGGGACG	0.632000													18	24					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863590	55863590	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55863590G>A	ENST00000327335.4	-	1	332	c.333C>T	c.(331-333)ttC>ttT	p.F111F	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	111					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						CAGCTAGAAGGAAAAATTCTG	0.388000													33	50					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7762851	7762851	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:7762851G>A	ENST00000358415.4	+	7	829	c.663G>A	c.(661-663)ctG>ctA	p.L221L	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Silent_p.L210L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	221					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CACAGGGACTGAGATTTCTTC	0.418000													44	53					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157551	22157551	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:22157551G>A	ENST00000397126.4	-	4	433	c.285C>T	c.(283-285)ttC>ttT	p.F95F	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Silent_p.F95F	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)				TCACTTTTTGGAAAGAATCTT	0.333000													35	47					0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165793870	165793870	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:165793870C>T	ENST00000303735.4	-	5	703	c.373G>A	c.(373-375)Ggt>Agt	p.G125S	SLC38A11_ENST00000493887.1_5'UTR|SLC38A11_ENST00000409662.1_Missense_Mutation_p.G147S|SLC38A11_ENST00000409149.3_Missense_Mutation_p.G147S|SLC38A11_ENST00000409058.1_Missense_Mutation_p.G178S	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	147					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						ATGTGTGGACCCAGTGAAATT	0.358000													33	55					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113405808	113405808	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:113405808A>G	ENST00000228928.7	+	14	3112	c.2933A>G	c.(2932-2934)tAt>tGt	p.Y978C	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	978	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CTGACTGTGTATGCCTGGGAG	0.577000													18	23					0	0	1	0	0
NARS	4677	broad.mit.edu	37	18	55282936	55282936	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:55282936C>T	ENST00000256854.5	-	4	734	c.279G>A	c.(277-279)aaG>aaA	p.K93K	NARS_ENST00000423481.2_5'UTR	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	93					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	CTTCCAGGTTCTTTTCTCTTC	0.368000													83	53					0	0	1	0	0
FAR2P2	100216479	broad.mit.edu	37	2	131176653	131176653	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:131176653C>T	ENST00000424873.1	-	0	516					NR_046260.1																						CCTGGGTTTCCTTCCAATGAG	0.493000													5	5					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8222142	8222142	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:8222142G>A	ENST00000361926.3	+	12	2057	c.1947G>A	c.(1945-1947)ggG>ggA	p.G649G	ARHGEF15_ENST00000582060.1_3'UTR|ARHGEF15_ENST00000421050.1_Silent_p.G649G	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	649					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						GCCGGAGGGGGGGCGTGCTCT	0.647000													108	142					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13072254	13072254	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:13072254C>T	ENST00000316609.5	-	6	1666	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	DLC1_ENST00000276297.4_Intron|DLC1_ENST00000512044.2_Intron			Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	0	SAM.				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						CTCTTATCTTCATCCACTTCC	0.448000													34	41					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4733026	4733026	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:4733026G>A	ENST00000302640.8	+	31	4332	c.3982G>A	c.(3982-3984)Gag>Aag	p.E1328K	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.E1319K|ITPR1_ENST00000443694.2_Missense_Mutation_p.E1328K|ITPR1_ENST00000423119.2_Missense_Mutation_p.E1334K|ITPR1_ENST00000354582.6_Missense_Mutation_p.E1343K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E1334K	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1343					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGTTATGGCCGAGGTGATTGT	0.358000													10	5					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19573100	19573100	+	Splice_Site	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:19573100G>A	ENST00000409832.3	+	8	1250	c.1197_splice	c.e8-1	p.E400_splice		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	400										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCATCTGCAGGAAATGTCTCA	0.284000													12	134					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330661	125330661	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:125330661G>A	ENST00000304865.2	-	1	177	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	32					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						ACACGATGAGGAAGAGAACAA	0.498000													28	42					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144806570	144806570	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:144806570C>A	ENST00000367545.3	+	27	3737	c.3737C>A	c.(3736-3738)aCt>aAt	p.T1246N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1246					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)		GATCTTGAAACTACCTGGTTA	0.438000													78	103					9.35569e-46	9.55283e-46	1	1	0
CPNE4	131034	broad.mit.edu	37	3	131624181	131624181	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:131624181G>A	ENST00000512055.1	-	6	2233	c.107C>T	c.(106-108)tCt>tTt	p.S36F	CPNE4_ENST00000512332.1_Missense_Mutation_p.S54F|CPNE4_ENST00000429747.1_Missense_Mutation_p.S36F|CPNE4_ENST00000511604.1_Missense_Mutation_p.S36F|CPNE4_ENST00000502818.1_Missense_Mutation_p.S54F			Q96A23	CPNE4_HUMAN	copine IV	36	C2 1.									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						ATCTCTGTCAGAAATGCCTTT	0.502000													32	46					0	0	1	0	0
ARFGAP2	84364	broad.mit.edu	37	11	47187050	47187050	+	Missense_Mutation	SNP	G	G	A	rs11542794		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:47187050G>A	ENST00000524782.1	-	16	1777	c.1549C>T	c.(1549-1551)Cgc>Tgc	p.R517C	ARFGAP2_ENST00000426335.2_Missense_Mutation_p.R381C|ARFGAP2_ENST00000319543.6_Missense_Mutation_p.R248C|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.R410C|ARFGAP2_ENST00000395449.3_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	517	Required for interaction with coatomer.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GAACCGTAGCGATCCTGGGGG	0.562000													56	65					0	0	1	0	0
IL17F	112744	broad.mit.edu	37	6	52101834	52101834	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:52101834G>A	ENST00000336123.4	-	3	494	c.387C>T	c.(385-387)gtC>gtT	p.V129V		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	129					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TCCTCCGGACGACCAGGGTCT	0.542000													26	78					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62407174	62407174	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:62407174G>A	ENST00000245663.4	-	3	1229	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V	ZBTB46_ENST00000302995.2_Missense_Mutation_p.A360V|ZBTB46_ENST00000395104.1_Missense_Mutation_p.A360V	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTGATGCAGGGCGTCGTCCTT	0.667000													30	46					0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53421572	53421572	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:53421572G>A	ENST00000262056.9	+	7	1000	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	EIF4B_ENST00000420463.3_Missense_Mutation_p.R225Q|EIF4B_ENST00000416762.3_Missense_Mutation_p.R186Q|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	225	Arg-rich.|Asp-rich.				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						CTAGAGTATCGAGATCGTTAT	0.478000													58	81					0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671949	39671949	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:39671949C>T	ENST00000398930.1	+	4	1120	c.766C>T	c.(766-768)Cat>Tat	p.H256Y	KCNJ15_ENST00000398932.1_Missense_Mutation_p.H256Y|KCNJ15_ENST00000398938.2_Missense_Mutation_p.H256Y|KCNJ15_ENST00000328656.3_Missense_Mutation_p.H256Y|KCNJ15_ENST00000398934.1_Missense_Mutation_p.H256Y			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	256					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						GACATTCTACCATGTGCTGGA	0.542000													27	47					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284008	159284008	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:159284008C>T	ENST00000332217.5	-	1	441	c.442G>A	c.(442-444)Gga>Aga	p.G148R		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	148					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)					CCCAGTGATCCAGAGGCCAGT	0.517000													24	99					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70990735	70990735	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:70990735G>A	ENST00000256389.3	-	2	1134	c.890C>T	c.(889-891)cCt>cTt	p.P297L	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	247	Peptidase M12B.				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)		AACCTCCAAAGGATGATAGAA	0.358000													31	9					0	0	1	0	0
IQCF2	389123	broad.mit.edu	37	3	51897323	51897323	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:51897323C>T	ENST00000333127.3	+	3	461	c.432C>T	c.(430-432)ctC>ctT	p.L144L	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	144										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGCTCTCCTCCAGGGCCACT	0.567000													47	79					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240279	3240279	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:3240279C>T	ENST00000217939.6	-	5	3601	c.3447G>A	c.(3445-3447)agG>agA	p.R1149R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1149						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)				CGTTGGGTCTCCTTCGAGAAG	0.517000													55	12					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128484075	128484075	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:128484075G>A	ENST00000325888.8	+	20	3208	c.2947G>A	c.(2947-2949)Gaa>Aaa	p.E983K	FLNC_ENST00000346177.6_Missense_Mutation_p.E983K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	983					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						TGTGGGACAGGAACAAGCATT	0.632000													26	35					0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21477268	21477268	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:21477268G>A	ENST00000356929.3	-	4	697	c.500C>T	c.(499-501)cCt>cTt	p.P167L		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ACATTTGAAAGGATTTTTTCC	0.323000													9	73					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42231306	42231306	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:42231306C>T	ENST00000541110.1	-	8	2204	c.1635_splice	c.e8-1	p.E546_splice	TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000372922.4_Splice_Site_p.E546_splice|TRERF1_ENST00000340840.2_Intron			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	546	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)			TCTCCTTCCTCCTACACAGAC	0.612000													29	75					0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11545695	11545695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:11545695C>T	ENST00000356392.4	-	1	230	c.143G>A	c.(142-144)tGg>tAg	p.W48*	CCDC151_ENST00000591179.1_Nonsense_Mutation_p.W48*|CCDC151_ENST00000586836.1_Intron|CCDC151_ENST00000545100.1_Intron	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	48										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GCCTGGGGTCCACGCCTGGGC	0.607000											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	52					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229248	21229248	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:21229248C>T	ENST00000233242.1	-	26	10619	c.10492G>A	c.(10492-10494)Gga>Aga	p.G3498R		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3498	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)	TTGACATCTCCTTTGGTAGAT	0.443000													47	78					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192761	132192761	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:132192761G>A	ENST00000359827.3	-	2	1654	c.692C>T	c.(691-693)tCg>tTg	p.S231L	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S231L|PLXNA4_ENST00000378539.5_Missense_Mutation_p.S231L|PLXNA4_ENST00000423507.2_Missense_Mutation_p.S231L			Q9HCM2	PLXA4_HUMAN	plexin A4	231	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						GAAGGTGTCCGAAGGGATCTT	0.483000													45	48					0	0	1	0	0
TRAV8-6	28680	broad.mit.edu	37	14	22447351	22447351	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:22447351C>T	ENST00000390443.3	+	0	552																											TACTTCTGTGCTGTGAGTGAC	0.483000													28	40					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530445	5530445	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:5530445C>T	ENST00000311659.4	-	2	491	c.344G>A	c.(343-345)gGa>gAa	p.G115E	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	115										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)		AGGGAGTGATCCAGGACTTGG	0.607000													21	40					0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55887034	55887034	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55887034G>A	ENST00000379662.1	+	1	888	c.888G>A	c.(886-888)agG>agA	p.R296R	OR6C68_ENST00000548615.1_Silent_p.R291R|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						ATACTCTTAGGAATGAGCAAG	0.303000													22	49					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	362266	362266	+	Silent	SNP	G	G	A	rs139166981		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:362266G>A	ENST00000342640.4	-	8	1116	c.1074C>T	c.(1072-1074)gcC>gcT	p.A358A	THEG_ENST00000346878.2_Silent_p.A334A	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	358					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		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)		AGCTCATAGAGGCGAGGGGAC	0.602000													38	66					0	0	1	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392586	22392586	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:22392586G>A	ENST00000390440.2	+	0	184																											GCAGGAAAAGGAGGCTGTGAC	0.418000													46	39					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167170732	167170732	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:167170732C>T	ENST00000476257.1	-	7	1254	c.956G>A	c.(955-957)gGa>gAa	p.G319E	SERPINI2_ENST00000471111.1_Missense_Mutation_p.G319E|SERPINI2_ENST00000264677.4_Missense_Mutation_p.G319E|SERPINI2_ENST00000461846.1_Missense_Mutation_p.G319E			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	319					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACCTGTTATTCCAGAAAGGTC	0.303000													18	21					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33457490	33457490	+	Silent	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:33457490T>C	ENST00000265112.3	+	9	1277	c.966T>C	c.(964-966)gaT>gaC	p.D322D	TARS_ENST00000414361.2_Silent_p.D201D|TARS_ENST00000541634.1_Silent_p.D218D|TARS_ENST00000502553.1_Silent_p.D322D|TARS_ENST00000455217.2_Silent_p.D355D	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	322					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AAAACCGAGATCATAGGAAAA	0.383000													27	52					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169394075	169394075	+	Missense_Mutation	SNP	C	C	T	rs144603502		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:169394075C>T	ENST00000545005.1	-	3	598	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	CCDC181_ENST00000367805.3_Missense_Mutation_p.E31K|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.E31K					coiled-coil domain containing 181																		TCACTTTTTTCATTTTCATTA	0.289000													48	46					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228733	142228733	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:142228733G>A	ENST00000519067.1	-	4	1156	c.853C>T	c.(853-855)Cac>Tac	p.H285Y	SLC45A4_ENST00000517878.1_Missense_Mutation_p.H336Y|SLC45A4_ENST00000433583.2_Missense_Mutation_p.H278Y|SLC45A4_ENST00000024061.3_Missense_Mutation_p.H285Y			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	336					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GAGGCGTCGTGGAAGATGGAG	0.672000													32	58					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31617566	31617566	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:31617566G>A	ENST00000319386.3	+	8	1681	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	CCDC129_ENST00000451887.2_Missense_Mutation_p.E256K|CCDC129_ENST00000409210.1_Missense_Mutation_p.E138K|CCDC129_ENST00000407970.3_Missense_Mutation_p.E230K			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	230										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAACAGAGCTGAAGAGAAAGC	0.498000													16	21					0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219189	134219189	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:134219189C>T	ENST00000305233.5	+	2	1244	c.1185C>T	c.(1183-1185)ccC>ccT	p.P395P	PWWP2B_ENST00000368609.4_Silent_p.P395P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	395										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		AGAGCTGTCCCCAGGGTCCAC	0.672000													21	29					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28519449	28519449	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:28519449G>A	ENST00000261609.7	-	7	896	c.788C>T	c.(787-789)tCc>tTc	p.S263F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	263					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGTCACGACGGACCTGAGGAA	0.592000													27	24					0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392598	178392598	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:178392598C>T	ENST00000320129.3	+	5	1496	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	ZNF454_ENST00000519564.1_Missense_Mutation_p.S398F	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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;0.234)		GATAATTCATCCTTTGCACGA	0.428000													30	48					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21344792	21344792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:21344792C>T	ENST00000215739.8	+	8	1128	c.769C>T	c.(769-771)Cag>Tag	p.Q257*	LZTR1_ENST00000389355.3_Nonsense_Mutation_p.Q238*|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	257					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CAACCTCTTCCAGTTTGAATT	0.522000													11	30					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927766	55927766	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:55927766T>C	ENST00000313447.1	-	1	27	c.28A>G	c.(28-30)Act>Gct	p.T10A		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATGAATTCAGTTAGCACTGTT	0.433000													51	68					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4944966	4944966	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:4944966G>A	ENST00000321961.2	-	1	671	c.604C>T	c.(604-606)Ctc>Ttc	p.L202F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	202					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)		ACAACAAAGAGCCCATAGATG	0.537000													40	57					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117703169	117703169	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:117703169G>A	ENST00000317775.6	-	12	2773	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F	NOS1_ENST00000338101.4_Silent_p.F696F|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	696					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)	TCTCCTGGTGGAACACAGGGG	0.577000													9	9					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103107239	103107239	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:103107239T>C	ENST00000375735.2	+	63	9934	c.9790T>C	c.(9790-9792)Tcc>Ccc	p.S3264P	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.S3264P	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3264	AAA 5 (By similarity).				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)		AGATGACCTTTCCATAGAAAA	0.299000													32	40					0	0	1	0	0
PUS1	80324	broad.mit.edu	37	12	132426061	132426061	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:132426061C>T	ENST00000542167.2	+	4	1363	c.610C>T	c.(610-612)Ccc>Tcc	p.P204S	PUS1_ENST00000443358.2_Missense_Mutation_p.P229S|PUS1_ENST00000440818.2_Missense_Mutation_p.P229S|PUS1_ENST00000376649.3_Missense_Mutation_p.P257S|PUS1_ENST00000535067.1_Intron			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	257						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		GCCGCAGGATCCCAGTGCCTG	0.612000													30	43					0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43512939	43512939	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:43512939C>T	ENST00000300215.3	-	1	542	c.85G>A	c.(85-87)Gga>Aga	p.G29R	EPB42_ENST00000441366.2_Intron|EPB42_ENST00000540029.1_Intron			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	0					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	p.G29R(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		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;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ATCCCACTTCCTTTAATGAAA	0.602000													88	111					0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25799016	25799016	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:25799016G>A	ENST00000244527.4	-	12	1516	c.1401C>T	c.(1399-1401)ctC>ctT	p.L467L	SLC17A1_ENST00000476801.1_Silent_p.L467L|SLC17A1_ENST00000427328.1_Silent_p.L413L|SLC17A1_ENST00000468082.1_Silent_p.L413L	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	467					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						CTCACCTTCAGAGACGTGTGT	0.433000													73	61					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193048957	193048957	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:193048957C>T	ENST00000342358.4	-	12	1533	c.1416G>A	c.(1414-1416)caG>caA	p.Q472Q		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	472					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)		TGTTGATTCTCTGTGGGGAGA	0.458000													26	92					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791303	95791303	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:95791303G>A	ENST00000260766.3	+	2	1134	c.500G>A	c.(499-501)gGa>gAa	p.G167E	PLCE1_ENST00000371380.2_Missense_Mutation_p.G167E	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	167					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)				AGTCCTTTAGGAAATCAGTCA	0.428000													50	78					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15730005	15730005	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:15730005C>T	ENST00000378076.3	-	3	729	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	126					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.E126Q(1)		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						TCGATAGGTTCTTTGGTTCCA	0.388000													37	49					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43918835	43918835	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:43918835C>T	ENST00000261488.6	-	9	1452	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	ENOX1_ENST00000540032.1_Missense_Mutation_p.R105Q|ENOX1_ENST00000412891.1_Missense_Mutation_p.R292Q	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	292					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CACTTCCCCTCGTTCAATCCA	0.478000													23	56					0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688881	55688881	+	Missense_Mutation	SNP	G	G	A	rs142751888	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55688881G>A	ENST00000358433.2	-	1	135	c.136C>T	c.(136-138)Ctc>Ttc	p.L46F		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	46					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						AGCAGGGTGAGGATGATGATG	0.418000													35	50					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24432568	24432568	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:24432568C>T	ENST00000330966.7	-	5	568		c.e5-1		MYOM3_ENST00000374434.3_Splice_Site|MYOM3_ENST00000329601.7_Splice_Site|MYOM3_ENST00000475306.1_Splice_Site			Q5VTT5	MYOM3_HUMAN	myomesin 3											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)		TCTCCTCTGTCTGGAGGCGGG	0.622000													25	16					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361469	70361469	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:70361469C>T	ENST00000305107.6	-	1	157	c.111G>A	c.(109-111)atG>atA	p.M37I	UGT2B4_ENST00000512583.1_Missense_Mutation_p.M37I|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	37					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						TCTTTATATTCATCCAGTGGC	0.468000													99	127					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241262017	241262017	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:241262017G>A	ENST00000366565.1	-	3	505	c.124C>T	c.(124-126)Cct>Tct	p.P42S	RGS7_ENST00000366562.4_Missense_Mutation_p.P42S|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000401882.1_Missense_Mutation_p.P42S|RGS7_ENST00000331110.7_Missense_Mutation_p.P16S|RGS7_ENST00000348120.2_Missense_Mutation_p.P42S|RGS7_ENST00000407727.1_Missense_Mutation_p.P42S|RGS7_ENST00000366563.1_Missense_Mutation_p.P42S|RGS7_ENST00000366564.1_Missense_Mutation_p.P42S	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	42	DEP.				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)			GTACGAATAGGAATTCCATTT	0.348000													20	45					0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3838336	3838336	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:3838336C>T	ENST00000428216.2	+	3	300	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	MAVS_ENST00000358134.6_Missense_Mutation_p.L58F|MAVS_ENST00000416600.2_Intron	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	58	CARD.|Required for interaction with NLRX1.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTCTGGCATCTCTTCAATAC	0.617000													46	65					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158648325	158648325	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158648325C>T	ENST00000368148.3	-	6	859		c.e6-1		SPTA1_ENST00000368147.3_Splice_Site	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 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)					GATGGTTTTCCTGTTGAAGGA	0.378000													66	31					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36870211	36870211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:36870211G>A	ENST00000279024.4	-	3	593	c.322C>T	c.(322-324)Caa>Taa	p.Q108*		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	108										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)				GGCTCCACTTGGAGGTAGAAG	0.562000													46	69					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13049821	13049821	+	Missense_Mutation	SNP	G	G	A	rs150998186	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:13049821G>A	ENST00000506447.1	+	17	3028	c.2948G>A	c.(2947-2949)aGc>aAc	p.S983N	CEP192_ENST00000430049.2_Missense_Mutation_p.S508N|CEP192_ENST00000325971.8_Missense_Mutation_p.S387N	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	578										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						GAGCAGGAGAGCTTCAGACCT	0.408000													80	62					0	0	1	0	0
USO1	8615	broad.mit.edu	37	4	76711919	76711919	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:76711919C>T	ENST00000538159.1	+	12	1215	c.1215C>T	c.(1213-1215)atC>atT	p.I405I	USO1_ENST00000514213.2_Silent_p.I388I			O60763	USO1_HUMAN	USO1 vesicle transport factor	403	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAGGAGAAATCGTGTCAACAC	0.323000													14	27					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11554538	11554538	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:11554538G>A	ENST00000262442.3	+	13	2318	c.2250G>A	c.(2248-2250)atG>atA	p.M750I	DNAH9_ENST00000454412.2_Missense_Mutation_p.M750I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	750	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)		ACAAGGTTATGAAAACTCTGC	0.463000													44	48					0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8073547	8073547	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:8073547C>T	ENST00000377482.5	-	4	1335	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	371					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		ACTGGCAGATCCTTCGCTGTT	0.483000													74	26					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109604784	109604784	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:109604784C>T	ENST00000338432.7	+	3	891	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	ACACB_ENST00000377854.5_Missense_Mutation_p.R258W|ACACB_ENST00000377848.3_Missense_Mutation_p.R258W			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	258					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)	TGGGGGGGATCGGGTCATCGA	0.612000													26	36					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143633	55143633	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:55143633G>A	ENST00000396331.1	+	6	963	c.606G>A	c.(604-606)tcG>tcA	p.S202S	LILRB1_ENST00000396327.3_Silent_p.S202S|LILRB1_ENST00000396321.2_Silent_p.S202S|LILRB1_ENST00000324602.7_Silent_p.S202S|LILRB1_ENST00000396315.1_Silent_p.S202S|LILRB1_ENST00000434867.2_Silent_p.S202S|LILRB1_ENST00000396317.1_Silent_p.S202S|LILRB1_ENST00000448689.1_Silent_p.S202S|LILRB1_ENST00000418536.2_Silent_p.S202S|LILRB1_ENST00000396332.4_Silent_p.S202S|LILRB1_ENST00000427581.2_Silent_p.S238S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	202	Ig-like C2-type 2.				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)		CTTATGACTCGAACTCTCCCT	0.602000										HNSCC(37;0.09)			70	88					0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46945788	46945788	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:46945788G>A	ENST00000311124.4	-	5	1388	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	SLC19A1_ENST00000485649.2_Silent_p.T372T|SLC19A1_ENST00000567670.1_Silent_p.T412T|SLC19A1_ENST00000380010.4_Silent_p.T412T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	412					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)		AAGTGATGATGGTCTTGACGA	0.572000													23	89					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97368118	97368118	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:97368118G>A	ENST00000457909.1	+	0	4738							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane		p.T1781T(1)		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						GAGAGAAGACGAGCGACATCT	0.547000													8	11					0	0	1	0	0
SLC39A8	64116	broad.mit.edu	37	4	103189198	103189198	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:103189198C>T	ENST00000424970.2	-	7	1194	c.879G>A	c.(877-879)aaG>aaA	p.K293K	SLC39A8_ENST00000356736.4_Silent_p.K293K|SLC39A8_ENST00000394833.2_Silent_p.K293K	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	293						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		GTTTGGGCCCCTTCAAACAGG	0.438000													32	61					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541205	55541205	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:55541205G>A	ENST00000361760.1	+	1	292	c.292G>A	c.(292-294)Ggt>Agt	p.G98S		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTCTTTCTCTGGTTGCATCAT	0.408000													91	108					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347758	140347758	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140347758C>T	ENST00000289269.5	+	1	1939	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		469	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCAAGCTTCCTGGAGGACT	0.498000													79	136					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20657796	20657796	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:20657796G>A	ENST00000428453.1	-	0	2162																				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						TGGTTTGCAGGGGAACCGGCT	0.517000													12	13					0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682711	140682711	+	Missense_Mutation	SNP	G	G	A	rs146929069	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140682711G>A	ENST00000239451.4	-	1	901	c.722C>T	c.(721-723)tCc>tTc	p.S241F		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	241					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CCCATACATGGAAAGAACTTG	0.413000													28	39					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575298	136575298	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:136575298G>A	ENST00000264162.2	-	6	1330	c.1320C>T	c.(1318-1320)gtC>gtT	p.V440V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	440	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)		AAAGCAGGGCGACGTCAGAGG	0.657000													44	52					0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35812784	35812784	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:35812784G>A	ENST00000216122.4	+	12	1721	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	MCM5_ENST00000382011.5_Missense_Mutation_p.E480K	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	523	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	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CGTCAAGGATGAGCACAATGA	0.572000													42	15					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756607	94756607	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:94756607G>A	ENST00000554723.1	-	2	862	c.444C>T	c.(442-444)gcC>gcT	p.A148A	SERPINA10_ENST00000393096.1_Silent_p.A108A|SERPINA10_ENST00000554173.1_Silent_p.A108A|SERPINA10_ENST00000261994.4_Silent_p.A108A			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	108					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AGCCTGTCATGGCCAAGGACA	0.577000													30	7					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734115	28734115	+	RNA	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:28734115T>C	ENST00000550043.1	+	0	520																											TGGATATGGGTTGGTCAAGTC	0.473000													45	59					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5763275	5763275	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:5763275G>A	ENST00000381624.3	+	16	1538	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Missense_Mutation_p.E151K	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	493						integral to membrane		p.E493K(1)									AGCAAACAAGGAAATTTCATG	0.443000													19	29					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153133779	153133779	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:153133779G>A	ENST00000370060.1	-	14	1870	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*	L1CAM_ENST00000538883.1_Nonsense_Mutation_p.Q563*|L1CAM_ENST00000370057.3_Nonsense_Mutation_p.Q561*|L1CAM_ENST00000361981.3_Nonsense_Mutation_p.Q556*|L1CAM_ENST00000543994.1_Nonsense_Mutation_p.Q563*|L1CAM_ENST00000361699.4_Nonsense_Mutation_p.Q561*|L1CAM_ENST00000370055.1_Nonsense_Mutation_p.Q556*	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	561	Ig-like C2-type 6.				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)					CCAAGCTCCTGGAGGTCTCGA	0.587000													75	8					0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90605360	90605360	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:90605360C>T	ENST00000369352.1	+	1	1173	c.1173C>T	c.(1171-1173)gaC>gaT	p.D391D		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	391					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)		AGTCCCAGGACCCAGAACCCT	0.532000													38	63					0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121107018	121107018	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:121107018C>T	ENST00000295228.3	+	2	838	c.792C>T	c.(790-792)ttC>ttT	p.F264F		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	264					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TGCCGGTGTTCGTGGACCCAG	0.667000													35	54					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6588737	6588737	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:6588737C>T	ENST00000285599.3	+	4	442	c.406C>T	c.(406-408)Ctc>Ttc	p.L136F	MAN2B2_ENST00000504248.1_Missense_Mutation_p.L136F	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	136					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ACACGGGTTTCTCTATGAAAC	0.627000													32	45					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87694022	87694022	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:87694022C>T	ENST00000436978.1	+	32	5755	c.5275C>T	c.(5275-5277)Cat>Tat	p.H1759Y	PTPN13_ENST00000316707.6_Missense_Mutation_p.H1563Y|PTPN13_ENST00000511467.1_Missense_Mutation_p.H1759Y|PTPN13_ENST00000411767.2_Missense_Mutation_p.H1754Y|PTPN13_ENST00000427191.2_Missense_Mutation_p.H1735Y	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)	1754						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)		GGATAAGTATCATATACATCA	0.408000													37	53					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230749	56230749	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:56230749C>T	ENST00000279791.1	-	1	128	c.129G>A	c.(127-129)atG>atA	p.M43I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	43					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)					TCAAAATGATCATACCAATAT	0.463000													23	31					0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1149760	1149760	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:1149760C>T	ENST00000358220.1	+	10	1089	c.945C>T	c.(943-945)ctC>ctT	p.L315L	WDR37_ENST00000263150.4_Silent_p.L315L			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	315										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CGTCCGAGCTCGTTCACTCTC	0.597000													16	13					0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797769	148797769	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:148797769C>T	ENST00000355220.5	+	5	725	c.623C>T	c.(622-624)tCg>tTg	p.S208L	MAGEA11_ENST00000333104.4_Missense_Mutation_p.S179L	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	208						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCAAGTACCTCGCCTGACCTG	0.498000													63	10					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903300	4903300	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:4903300C>T	ENST00000380378.1	+	1	252	c.252C>T	c.(250-252)ctC>ctT	p.L84L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.L57L	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCGGAGACTCCACAAACCCA	0.468000													44	62					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124829059	124829059	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:124829059G>A	ENST00000423114.2	-	9	1119	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S	SLC12A8_ENST00000393469.4_Missense_Mutation_p.P345S|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000314584.7_Missense_Mutation_p.P98S|SLC12A8_ENST00000469902.1_Missense_Mutation_p.P345S|SLC12A8_ENST00000430155.2_Missense_Mutation_p.P146S			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	345					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GCAAGTGCAGGGATCACTTTC	0.488000													32	41					0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204129706	204129706	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:204129706G>A	ENST00000367195.2	-	4	517	c.474C>T	c.(472-474)ctC>ctT	p.L158L	REN_ENST00000272190.8_Silent_p.L158L			P00797	RENI_HUMAN	renin	158					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TGTCCTGGCTGAGAAAGCCAC	0.577000													40	34					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705811	30705811	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:30705811G>A	ENST00000256246.2	-	1	797	c.723C>T	c.(721-723)ttC>ttT	p.F241F		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	241										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)		CCAGGTCAGCGAAGTTTTTCA	0.333000													34	57					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150901481	150901481	+	Missense_Mutation	SNP	C	C	T	rs137870998		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:150901481C>T	ENST00000261800.5	-	18	10685	c.10673G>A	c.(10672-10674)cGa>cAa	p.R3558Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3558	Cadherin 32.				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)			CTGGGGGTCTCGGTCTGTGGC	0.582000													21	33					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38987556	38987556	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:38987556G>A	ENST00000355481.4	+	42	6984	c.6853G>A	c.(6853-6855)Gag>Aag	p.E2285K	RYR1_ENST00000360985.3_Missense_Mutation_p.E2285K|RYR1_ENST00000359596.3_Missense_Mutation_p.E2285K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2285	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)	TGACAACAATGAGCTGGCCTT	0.642000													16	28					0	0	1	0	0
RNF126	55658	broad.mit.edu	37	19	652849	652849	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:652849G>A	ENST00000292363.5	-	2	266	c.111C>T	c.(109-111)atC>atT	p.I37I		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	37							protein binding|zinc ion binding			lung(1)	1		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)		GAAGCTCCTCGATAAAACCAG	0.597000													9	14					0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245655	59245655	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:59245655C>T	ENST00000530162.1	+	1	810	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F249L(1)		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						CCCTGCATTTCGTGCCCTGCA	0.547000													102	108					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17156138	17156138	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:17156138G>A	ENST00000377833.4	-	8	836	c.771C>T	c.(769-771)agC>agT	p.S257S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	257					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)	TGCAGGCAGGGCTGTTGGGTG	0.537000													6	19					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13775886	13775886	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:13775886C>T	ENST00000380567.1	+	15	1971	c.1099C>T	c.(1099-1101)Ctg>Ttg	p.L367L	OFD1_ENST00000380550.3_Silent_p.L467L|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Silent_p.L507L			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	507					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CAGGCAAGCTCTGCACAAACA	0.458000													15	1					0	0	1	0	0
CLHC1	130162	broad.mit.edu	37	2	55403062	55403062	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:55403062A>T	ENST00000401408.1	-	13	1970	c.1625T>A	c.(1624-1626)gTg>gAg	p.V542E	CLHC1_ENST00000494539.1_5'UTR|CLHC1_ENST00000406076.1_Missense_Mutation_p.V420E|CLHC1_ENST00000407122.1_Missense_Mutation_p.V542E|CLHC1_ENST00000406437.2_Missense_Mutation_p.V93E	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		TATATTTGCCACTTCTTGCCA	0.348000													28	56					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197032007	197032007	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:197032007G>A	ENST00000367412.1	-	2	288	c.245C>T	c.(244-246)tCt>tTt	p.S82F		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	82	Sushi 1.				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						TGGCTCTGGAGACCAGCCTTC	0.388000													175	102					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805411	54805411	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:54805411C>T	ENST00000306858.7	+	5	1758	c.1642C>T	c.(1642-1644)Ccc>Tcc	p.P548S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	548										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)					AGTATTTAAACCCACTTTACC	0.423000													23	78					0	0	1	0	0
MKS1	54903	broad.mit.edu	37	17	56291629	56291629	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:56291629G>A	ENST00000393119.2	-	6	709	c.635C>T	c.(634-636)cCc>cTc	p.P212L	MKS1_ENST00000537529.2_Missense_Mutation_p.P202L|MKS1_ENST00000546108.1_Missense_Mutation_p.P9L|MKS1_ENST00000313863.6_Missense_Mutation_p.P212L|MKS1_ENST00000337050.7_Missense_Mutation_p.P212L	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	212					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						CTTTTTATAGGGCCCCAGGTC	0.502000													17	31					0	0	1	0	0
NSUN6	221078	broad.mit.edu	37	10	18885165	18885165	+	Missense_Mutation	SNP	G	G	A	rs147725351		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:18885165G>A	ENST00000377304.4	-	7	1167	c.749C>T	c.(748-750)aCa>aTa	p.T250I		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	250							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TGCAATGTGTGTTGTTTTCCC	0.398000													36	53					0	0	1	0	0
C11orf85	283129	broad.mit.edu	37	11	64708113	64708113	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:64708113C>T	ENST00000301896.5	-	9	552	c.479G>A	c.(478-480)gGg>gAg	p.G160E	C11orf85_ENST00000536065.1_Silent_p.R75R|C11orf85_ENST00000530444.1_Silent_p.R103R|C11orf85_ENST00000432175.1_Missense_Mutation_p.G160E	NM_001037225.1	NP_001032302.1	Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	160										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TTTTTCTTTCCCTATTCTGTT	0.408000													20	30					0	0	1	0	0
CORO6	84940	broad.mit.edu	37	17	27944633	27944633	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:27944633C>T	ENST00000345068.5	-	6	851	c.638G>A	c.(637-639)aGg>aAg	p.R213K	CORO6_ENST00000456796.3_Intron|CORO6_ENST00000445145.2_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.R213K|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000580212.1_Intron|CORO6_ENST00000584969.1_Intron|CORO6_ENST00000577909.1_Intron			Q6QEF8	CORO6_HUMAN	coronin 6	213					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						GGCCGCAAACCTCTCCTGGGG	0.662000													4	3					0	0	1	0	0
CLHC1	130162	broad.mit.edu	37	2	55403063	55403063	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:55403063C>T	ENST00000401408.1	-	13	1969	c.1624G>A	c.(1624-1626)Gtg>Atg	p.V542M	CLHC1_ENST00000494539.1_5'UTR|CLHC1_ENST00000406076.1_Missense_Mutation_p.V420M|CLHC1_ENST00000407122.1_Missense_Mutation_p.V542M|CLHC1_ENST00000406437.2_Missense_Mutation_p.V93M	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		ATATTTGCCACTTCTTGCCAC	0.348000													28	58					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	72897833	72897833	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:72897833G>A	ENST00000308744.6	+	1	313	c.215G>A	c.(214-216)tGg>tAg	p.W72*	NPFFR2_ENST00000344413.5_Nonsense_Mutation_p.W72*	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	72					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)			AAAAGTAGCTGGAGCCGGAGC	0.672000													17	26					0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1462076	1462076	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:1462076G>A	ENST00000308219.9	+	4	717	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	BRSK2_ENST00000528841.1_Missense_Mutation_p.G111R|BRSK2_ENST00000382179.1_Missense_Mutation_p.G157R|BRSK2_ENST00000308230.5_Missense_Mutation_p.G111R|BRSK2_ENST00000528710.1_Missense_Mutation_p.G51R|BRSK2_ENST00000526678.1_Missense_Mutation_p.G111R|BRSK2_ENST00000531197.1_Missense_Mutation_p.G111R	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	111	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGTGAAGAAGGGGAGGCTGAC	0.622000													4	1					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285606	48285606	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:48285606C>T	ENST00000320048.1	+	1	194	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	65					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						AGCTACTTATCCTTTGTGGAG	0.488000													34	32					0	0	1	0	0
FKBP4	2288	broad.mit.edu	37	12	2908382	2908382	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:2908382G>A	ENST00000001008.4	+	5	830	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	215	PPIase FKBP-type 2.				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	GGAGAAAGGAGAACATTCCAT	0.527000													40	38					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61766054	61766054	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:61766054C>T	ENST00000423902.2	+	31	7249	c.6770C>T	c.(6769-6771)cCc>cTc	p.P2257L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2257	Glu-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			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)			TCTTCCCAGCCCGAAGGTAAG	0.542000													20	46					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61868730	61868730	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:61868730G>A	ENST00000280772.1	-	27	3222	c.3031C>T	c.(3031-3033)Cca>Tca	p.P1011S	ANK3_ENST00000373827.2_Missense_Mutation_p.P1005S|ANK3_ENST00000503366.1_Missense_Mutation_p.P1012S|ANK3_ENST00000355288.2_Missense_Mutation_p.P145S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1011	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						CACTTGCGTGGAGGAATGATG	0.552000													22	44					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33346673	33346673	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:33346673G>A	ENST00000374796.2	-	7	3148	c.578C>T	c.(577-579)tCc>tTc	p.S193F	NCOA6_ENST00000359003.2_Missense_Mutation_p.S193F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	193	CREBBP-binding region.|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						TGCCATCATGGAAGATGACAC	0.478000													37	55					0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70478257	70478257	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:70478257G>T	ENST00000381280.4	+	9	1166	c.913G>T	c.(913-915)Gac>Tac	p.D305Y	SMOC1_ENST00000361956.3_Missense_Mutation_p.D305Y	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	305					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AGAGGCGGATGACCCCTTCAA	0.597000													24	8					2.39556e-15	2.42898e-15	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55826612	55826612	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:55826612C>T	ENST00000373965.2	-	19	2540	c.2146G>A	c.(2146-2148)Gat>Aat	p.D716N	PCDH15_ENST00000373955.1_Missense_Mutation_p.D709N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.D709N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D687N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D714N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D709N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D672N|PCDH15_ENST00000373957.3_Missense_Mutation_p.D687N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D709N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.D709N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.D716N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D320N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D638N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	709	Cadherin 6.				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)				TCATTGACATCTGTCACCACT	0.373000										HNSCC(58;0.16)			28	57					0	0	1	0	0
GPR142	350383	broad.mit.edu	37	17	72363832	72363832	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:72363832G>A	ENST00000335666.4	+	1	236	c.188G>A	c.(187-189)gGg>gAg	p.G63E		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	63						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.G63V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CAGGTCACAGGGGGAAGCTGG	0.547000													16	34					0	0	1	0	0
PRPF40A	55660	broad.mit.edu	37	2	153535902	153535902	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:153535902G>A	ENST00000410080.1	-	7	1082	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	208	WW 2.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TTGGCCCAGCGAGATTCTTTT	0.338000													9	10					0	0	1	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22315252	22315252	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:22315252C>T	ENST00000390434.3	+	0	415																											CAAAGGACTCCAGCTTCTCCT	0.493000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	106					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159302	118159302	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:118159302G>A	ENST00000427715.2	+	5	468	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	SLC30A8_ENST00000521243.1_Missense_Mutation_p.E12K|SLC30A8_ENST00000519688.1_Missense_Mutation_p.E12K|SLC30A8_ENST00000456015.2_Missense_Mutation_p.E61K	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	61					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)			CAAGCCCACAGAAAAGGGGGC	0.507000													46	77					0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512738	248512738	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:248512738C>T	ENST00000317861.1	+	1	662	c.662C>T	c.(661-663)tCg>tTg	p.S221L		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	221					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						CACATCTTTTCGACCGTGCTC	0.498000													20	96					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962748	34962748	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:34962748C>T	ENST00000329357.5	+	1	1836	c.1800C>T	c.(1798-1800)ggC>ggT	p.G600G		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	600										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						TAAGCAAGGGCTACAGAATGC	0.448000													135	20					0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48886772	48886772	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:48886772G>A	ENST00000314014.2	+	7	367	c.236G>A	c.(235-237)aGg>aAg	p.R79K	RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548364.1_Missense_Mutation_p.R79K	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	79										endometrium(1)|large_intestine(4)	5						TCAGCACCCAGGACTGGGTAA	0.522000													16	36					0	0	1	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125232150	125232150	+	RNA	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:125232150A>T	ENST00000439075.1	-	0	2595					NR_026876.1																						ATCAGAAATAATAAGAGGATC	0.348000													15	42					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382512	41382512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:41382512C>T	ENST00000377801.3	-	2	302	c.228G>A	c.(226-228)tgG>tgA	p.W76*	PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.W76*			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	76	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						GAGTGGCTAACCATTTCCGCA	0.463000													28	42					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43814002	43814002	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:43814002G>A	ENST00000382031.1	+	5	1076	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	MAP1A_ENST00000300231.5_Missense_Mutation_p.E111K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E111K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	111	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)	AGAGCTAGAGGAGGAGCAGTC	0.547000													33	60					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66030132	66030132	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:66030132T>A	ENST00000443035.3	-	7	1168	c.953A>T	c.(952-954)cAc>cTc	p.H318L	DENND4A_ENST00000431932.2_Missense_Mutation_p.H318L	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	318	DENN.				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						AAAAGGCCAGTGAGAAAGAAG	0.383000													9	5					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627267	108627267	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:108627267G>A	ENST00000264047.2	+	9	1969	c.1693G>A	c.(1693-1695)Gat>Aat	p.D565N	SLC5A7_ENST00000540517.1_Missense_Mutation_p.D460N|SLC5A7_ENST00000409059.1_Missense_Mutation_p.D565N	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	565					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)	GGCCTTCCTTGATGTTGATTC	0.393000													29	31					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94055158	94055158	+	Missense_Mutation	SNP	C	C	T	rs145633247		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:94055158C>T	ENST00000297268.6	+	44	3403	c.2932C>T	c.(2932-2934)Cgt>Tgt	p.R978C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	978					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)	ACATGGAAACCGTGGTGAAAC	0.572000										HNSCC(75;0.22)			11	9					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158632529	158632529	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:158632529G>A	ENST00000368148.3	-	17	2607	c.2427C>T	c.(2425-2427)atC>atT	p.I809I	SPTA1_ENST00000368147.3_Silent_p.I809I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	809			I -> V (in dbSNP:rs7547313).		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)					CAGTCTCTTGGATCCAGGCCT	0.502000													24	72					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999275	27999275	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:27999275G>A	ENST00000441525.1	-	1	291	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	59										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						CATCGTTCAGGAAACCACCAT	0.507000													36	5					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138453002	138453002	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:138453002C>T	ENST00000344876.4	-	1	627	c.241G>A	c.(241-243)Gag>Aag	p.E81K	PCDH18_ENST00000412923.2_Missense_Mutation_p.E81K|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	81	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E81*(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCATTATCCTCGTTTACTACA	0.428000													25	189					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119569512	119569512	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:119569512C>T	ENST00000368468.3	-	6	1346	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	MAN1A1_ENST00000368466.2_Missense_Mutation_p.R325Q	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	302					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)		TGCTTTCTTTCGAAAAATCTG	0.348000													16	45					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2429012	2429012	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:2429012C>T	ENST00000452833.1	-	19	2927	c.2919G>A	c.(2917-2919)atG>atA	p.M973I	TRPM5_ENST00000533060.1_Missense_Mutation_p.M971I|TRPM5_ENST00000528453.1_Missense_Mutation_p.M971I|AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000155858.6_Missense_Mutation_p.M971I			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	971						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGAGCAGGTTCATGAGCAGCA	0.602000													37	36					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21427460	21427460	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:21427460C>T	ENST00000307378.6	-	15	2456	c.1736G>A	c.(1735-1737)gGa>gAa	p.G579E	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.G447E|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.G579E|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.G447E	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	579					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTTCAAAGTTCCCCAGTGTAA	0.363000													38	58					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55107865	55107865	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:55107865C>T	ENST00000251372.3	+	7	1352	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	390	Ig-like C2-type 4.				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)		TGACCTCAGCCCACTCGGGGA	0.587000													77	87					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656204	12656204	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:12656204G>A	ENST00000425538.1	+	10	1799	c.1599G>A	c.(1597-1599)tgG>tgA	p.W533*	MYOCD_ENST00000395988.1_Nonsense_Mutation_p.W437*|MYOCD_ENST00000343344.4_Nonsense_Mutation_p.W533*	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	533					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)		AACTCACCTGGAAACTCCAGC	0.537000													31	42					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135432503	135432503	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:135432503C>T	ENST00000394143.1	+	6	6929	c.6638C>T	c.(6637-6639)tCg>tTg	p.S2213L	GPR112_ENST00000370652.1_Missense_Mutation_p.S2213L|GPR112_ENST00000287534.4_Missense_Mutation_p.S2150L|GPR112_ENST00000412101.1_Missense_Mutation_p.S2008L|GPR112_ENST00000394141.1_Missense_Mutation_p.S2008L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2213					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)					TCACCAATATCGTCCTTTTTT	0.458000													19	63					0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925324	27925324	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:27925324C>T	ENST00000244623.1	+	1	306	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	102					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						CCCAGCTTTTCATATTTCTGG	0.433000													17	137					0	0	1	0	0
TMEM40	55287	broad.mit.edu	37	3	12790159	12790159	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:12790159G>A	ENST00000314124.7	-	3	562	c.206C>T	c.(205-207)tCc>tTc	p.S69F	TMEM40_ENST00000264728.8_Missense_Mutation_p.S69F|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000431022.2_Missense_Mutation_p.S85F|TMEM40_ENST00000435218.2_Missense_Mutation_p.S69F	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	69	Ser-rich.					integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TATACCTgaggaggaggagga	0.388000													50	86					0	0	1	0	0
FADS1	3992	broad.mit.edu	37	11	61572177	61572177	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:61572177T>A	ENST00000350997.7	-	7	1265	c.1033A>T	c.(1033-1035)Atc>Ttc	p.I345F	FADS2_ENST00000574708.1_Intron|FADS1_ENST00000536991.1_Missense_Mutation_p.I36F|FADS1_ENST00000542506.1_Missense_Mutation_p.I204F|FADS1_ENST00000433932.1_Missense_Mutation_p.I204F	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	288					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTTCGCTGGATAACAAAATAG	0.542000													39	33					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563735	176563735	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:176563735G>A	ENST00000367662.3	+	3	2159	c.995G>A	c.(994-996)gGa>gAa	p.G332E	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G332E	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	332					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						AAGGACAAGGGAAAGCGGGAT	0.562000													35	51					0	0	1	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118386491	118386491	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:118386491C>T	ENST00000537242.1	+	0	473				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_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)		AGACAGCTTTCTTAATACAAG	0.587000													9	10					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129637084	129637084	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	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													47	93					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141558	133141558	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:133141558C>T	ENST00000388996.4	-	15	2990	c.2570G>A	c.(2569-2571)gGg>gAg	p.G857E	KCNQ3_ENST00000519445.1_Missense_Mutation_p.G845E|KCNQ3_ENST00000521134.1_Missense_Mutation_p.G737E	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	857					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)			AATCCCATCCCCTGTGGACGA	0.547000													22	41					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42196586	42196586	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:42196586G>A	ENST00000373100.1	+	6	635	c.175G>A	c.(175-177)Gcg>Acg	p.A59T	SGK2_ENST00000373092.3_Missense_Mutation_p.A59T|SGK2_ENST00000341458.4_Missense_Mutation_p.A119T|SGK2_ENST00000373077.1_Missense_Mutation_p.A59T|SGK2_ENST00000423407.3_Missense_Mutation_p.A59T|SGK2_ENST00000426287.1_Missense_Mutation_p.A85T			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	119					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GTCTGATGGGGCGTTCTATGC	0.498000													25	43					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104510988	104510988	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:104510988C>T	ENST00000304883.2	-	5	1389	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	417						integral to plasma membrane	tachykinin receptor activity	p.D417N(1)		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)		GTGTCTGCATCGTTGGGGTCA	0.527000													110	119					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110986	81110986	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:81110986C>T	ENST00000228644.3	+	1	296	c.144C>T	c.(142-144)ggC>ggT	p.G48G		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	48					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AGCTGCAGGGCTCAGATGAGG	0.632000													18	23					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964219	123964219	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:123964219G>A	ENST00000314393.4	+	3	1304	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	157						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)			ACAGTCCATCGAAACCACCAA	0.507000													54	62					0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	70000994	70000994	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:70000994A>C	ENST00000352241.4	+	7	1057	c.894A>C	c.(892-894)agA>agC	p.R298S	MITF_ENST00000314557.6_Missense_Mutation_p.R191S|MITF_ENST00000472437.1_Missense_Mutation_p.R246S|MITF_ENST00000394355.2_Missense_Mutation_p.R273S|MITF_ENST00000448226.2_Missense_Mutation_p.R304S|MITF_ENST00000531774.1_Missense_Mutation_p.R135S|MITF_ENST00000328528.6_Missense_Mutation_p.R297S|MITF_ENST00000394351.3_Missense_Mutation_p.R197S|MITF_ENST00000314589.5_Missense_Mutation_p.R282S	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	304					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTGAAGCAAGAGCACTGGCCA	0.368000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						12	28					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581974	84581974	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:84581974G>A	ENST00000286744.5	+	16	2055	c.1831G>A	c.(1831-1833)Ggc>Agc	p.G611S	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G611S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	611	TSP type-1 4.					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)			AGAGTGTGAAGGCCCCAAGCT	0.627000													17	44					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81224305	81224305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:81224305G>A	ENST00000599697.1	-	9	1635	c.1636C>T	c.(1636-1638)Caa>Taa	p.Q546*	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	546	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						GATGGTTCTTGGAGACCGGAA	0.428000													48	72					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587196	15587196	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:15587196C>T	ENST00000292609.4	-	2	414	c.285G>A	c.(283-285)aaG>aaA	p.K95K	PGLYRP2_ENST00000340880.4_Silent_p.K95K			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	95					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGGCCACCTCCTTGGTCAGGC	0.617000													42	55					0	0	1	0	0
GORASP2	26003	broad.mit.edu	37	2	171811210	171811210	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:171811210C>T	ENST00000234160.4	+	6	1432	c.617C>T	c.(616-618)cCa>cTa	p.P206L	GORASP2_ENST00000452526.2_Missense_Mutation_p.P218L|GORASP2_ENST00000493692.1_Intron	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	206						Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CCTACACGCCCATTTGAGGAA	0.378000													20	34					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64168822	64168822	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:64168822C>T	ENST00000395391.1	+	4	3515	c.2140C>T	c.(2140-2142)Cat>Tat	p.H714Y	ZNF107_ENST00000344930.3_Missense_Mutation_p.H714Y|ZNF107_ENST00000423627.1_Missense_Mutation_p.H714Y			Q9UII5	ZN107_HUMAN	zinc finger protein 107	714					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)				TAAGAAAATTCATACTTCAGA	0.338000													15	26					0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14664638	14664638	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:14664638C>T	ENST00000240617.5	-	7	1504	c.852G>A	c.(850-852)ttG>ttA	p.L284L		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	284					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						CCAGAGACTCCAAAAACCCTA	0.368000													18	29					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049605	9049605	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9049605C>T	ENST00000397910.4	-	5	32229	c.32026G>A	c.(32026-32028)Gaa>Aaa	p.E10676K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10678	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						GTCTCTGTTTCATGTGGGGAC	0.453000													44	60					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166986958	166986958	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:166986958G>A	ENST00000061240.2	+	16	2778	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	TLL1_ENST00000507499.1_Missense_Mutation_p.E734K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	711	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)		TATGAGAATTGAATTCAAATC	0.388000													59	81					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45877933	45877933	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:45877933G>A	ENST00000374391.2	+	2	206	c.153G>A	c.(151-153)gtG>gtA	p.V51V	ALOX5_ENST00000542434.1_Silent_p.V51V	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	51	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CTTCCCAGGTGGATTCATACG	0.532000													22	43					0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416446	145416446	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr1:145416446C>T	ENST00000336751.5	+	4	1029	c.791C>T	c.(790-792)tCg>tTg	p.S264L	HFE2_ENST00000497365.1_Missense_Mutation_p.S38L|HFE2_ENST00000475797.1_Missense_Mutation_p.S38L|HFE2_ENST00000357836.5_Missense_Mutation_p.S151L	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	264					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCAGTTTGTCGATTCAAACT	0.493000													39	117					0	0	1	0	0
RNF130	55819	broad.mit.edu	37	5	179407171	179407171	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:179407171G>A	ENST00000522208.2	-	4	741	c.723C>T	c.(721-723)gcC>gcT	p.A241A	RNF130_ENST00000261947.4_Silent_p.A241A|RNF130_ENST00000521389.1_Silent_p.A241A			Q86XS8	GOLI_HUMAN	ring finger protein 130	241					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTTACTGATGGCTTTCTTGG	0.373000													31	46					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273882	10273882	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr16:10273882C>T	ENST00000396573.2	-	3	696	c.387G>A	c.(385-387)ggG>ggA	p.G129G	GRIN2A_ENST00000404927.2_Silent_p.G129G|GRIN2A_ENST00000562109.1_Silent_p.G129G|GRIN2A_ENST00000396575.2_Silent_p.G129G|GRIN2A_ENST00000330684.3_Silent_p.G129G	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	129					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)	TAGATGCGCCCCCATGAATGC	0.597000													4	60					0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112910842	112910842	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:112910842C>T	ENST00000351677.2	+	7	1049	c.851C>T	c.(850-852)cCc>cTc	p.P284L	PTPN11_ENST00000392597.1_Missense_Mutation_p.P284L	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	284	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						aacaTCCTGCCCTGTAAGTAT	0.413000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				26	36					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204508	9204508	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:9204508G>A	ENST00000429566.3	+	1	654	c.588G>A	c.(586-588)agG>agA	p.R196R		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTGTGAATAGGATCTTCATCC	0.567000													50	87					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090893	184090893	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:184090893C>T	ENST00000204615.7	-	6	684	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	THPO_ENST00000445696.2_Missense_Mutation_p.R153Q|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000477594.1_5'UTR|THPO_ENST00000421442.2_Missense_Mutation_p.R157Q	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	157					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)			CACCTTTCCTCGGAGCAGGTG	0.612000													31	42					0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37699389	37699389	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:37699389G>A	ENST00000248901.6	+	8	829	c.642G>A	c.(640-642)gtG>gtA	p.V214V		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	214	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						AGCGCTTTGTGTCCATGAACC	0.622000													23	11					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140718799	140718799	+	Silent	SNP	G	G	A	rs140493211	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140718799G>A	ENST00000394576.2	+	1	261	c.261G>A	c.(259-261)gcG>gcA	p.A87A	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)			TGGTCACTGCGAACAGGATAG	0.552000													42	68					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46596376	46596376	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:46596376G>A	ENST00000539173.1	+	4	1195	c.760G>A	c.(760-762)Gag>Aag	p.E254K	ADARB1_ENST00000348831.4_Missense_Mutation_p.E254K|ADARB1_ENST00000360697.3_Missense_Mutation_p.E254K|ADARB1_ENST00000389863.4_Missense_Mutation_p.E254K|ADARB1_ENST00000437626.1_Intron	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	254	DRBM 2.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CTTCCTCTCCGAGAGCGGGGA	0.562000													36	62					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189899755	189899755	+	Missense_Mutation	SNP	C	C	T	rs139229616	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:189899755C>T	ENST00000374866.3	-	53	4514	c.4240G>A	c.(4240-4242)Gat>Aat	p.D1414N		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1414	Fibrillar collagen NC1.				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)			TTAGCTTGATCGTCCATGTAT	0.383000													41	58					0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2965965	2965965	+	Nonstop_Mutation	SNP	A	A	G			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:2965965A>G	ENST00000575751.1	-	1	936	c.937T>C	c.(937-939)Tga>Cga	p.*313R		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						AATTACCTTCATTTAGGCCTC	0.468000													10	61					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	4495021	4495021	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:4495021G>A	ENST00000602557.1	-	2	700	c.145C>T	c.(145-147)Cct>Tct	p.P49S	CSMD1_ENST00000602723.1_Missense_Mutation_p.P49S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P49S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P49S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P49S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P49S|CSMD1_ENST00000520002.1_Missense_Mutation_p.P49S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	49	CUB 1.					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)		TACCCGTGAGGAAACCCTGGG	0.488000													29	43					0	0	1	0	0
FPGS	2356	broad.mit.edu	37	9	130569893	130569893	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:130569893C>T	ENST00000373245.1	+	8	720	c.670C>T	c.(670-672)Ctt>Ttt	p.L224F	FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.L198F|FPGS_ENST00000373225.3_Missense_Mutation_p.L174F|FPGS_ENST00000373247.2_Missense_Mutation_p.L224F			Q05932	FOLC_HUMAN	folylpolyglutamate synthase	224					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	AGTCTCCTCTCTTGGCATCGA	0.627000													16	30					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541701	96541701	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:96541701G>A	ENST00000371321.3	+	5	848	c.766G>A	c.(766-768)Gac>Aac	p.D256N	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	256					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)	AGAATCGATGGACATCAACAA	0.353000													47	43					0	0	1	0	0
ALG5	29880	broad.mit.edu	37	13	37569729	37569729	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:37569729G>A	ENST00000239891.3	-	2	137	c.71C>T	c.(70-72)tCc>tTc	p.S24F	ALG5_ENST00000413537.2_Missense_Mutation_p.S24F|ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000443765.1_Missense_Mutation_p.S24F	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	24					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TGCAACGATGGAAATCTAAAA	0.333000													20	31					0	0	1	0	0
RAB6A	5870	broad.mit.edu	37	11	73441840	73441840	+	Silent	SNP	G	G	A	rs142720463		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:73441840G>A	ENST00000310653.6	-	2	600	c.99C>T	c.(97-99)ttC>ttT	p.F33F	RAB6A_ENST00000541588.1_Silent_p.F33F|RAB6A_ENST00000336083.3_Silent_p.F33F|RAB6A_ENST00000536566.1_5'UTR	NM_001077637.1|NM_002869.4	NP_001071105.1|NP_002860.2	P20340	RAB6A_HUMAN	RAB6A, member RAS oncogene family	33					minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network	GTP binding|GTPase activity|protein domain specific binding			large_intestine(2)|lung(2)	4						TGTCATACATGAATCTGGTGA	0.289000													35	62					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49942790	49942790	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:49942790G>A	ENST00000257981.6	+	8	1562	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	434					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						GCAGCAGCGAGGCCAACGGGA	0.687000													6	15					0	0	1	0	0
GATA5	140628	broad.mit.edu	37	20	61039994	61039994	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:61039994G>A	ENST00000252997.2	-	7	1153	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	364					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			CCTCAGGCTCGAACTTGAACT	0.677000													10	15					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1263202	1263202	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:1263202G>A	ENST00000447027.1	+	31	5159	c.5101G>A	c.(5101-5103)Gcc>Acc	p.A1701T	MUC5B_ENST00000529681.1_Missense_Mutation_p.A1698T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1698	7 X Cys-rich subdomain repeats.|Thr-rich.				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)		AACACGCTCAGCCCTTCCAGG	0.672000													4	11					0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105250889	105250889	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:105250889C>T	ENST00000306107.5	+	4	938	c.438C>T	c.(436-438)ctC>ctT	p.L146L	ALCAM_ENST00000486979.2_Silent_p.L95L|ALCAM_ENST00000472644.2_Silent_p.L146L|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	146	Ig-like V-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.L146L(3)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CACTGTTTCTCGAAACAGAGC	0.348000													83	113					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74104634	74104634	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:74104634C>T	ENST00000370336.4	+	1	164	c.6C>T	c.(4-6)tcC>tcT	p.S2S	DDX43_ENST00000539829.1_Silent_p.S2S|OOEP_ENST00000370363.1_5'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	2						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GAACAATGTCCCACCACGGAG	0.642000													31	36					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554039	140554039	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140554039G>A	ENST00000231137.3	+	1	1797	c.1623G>A	c.(1621-1623)ctG>ctA	p.L541L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		541	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCCGCGCTGAGCAGCGAGG	0.701000													49	65					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290867	141290867	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:141290867G>A	ENST00000247452.3	-	3	1254	c.907C>T	c.(907-909)Ccg>Tcg	p.P303S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	303	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)					TGGGCTCTCGGACCCCACAGG	0.488000										HNSCC(46;0.14)			70	12					0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46284667	46284667	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:46284667T>C	ENST00000256413.3	+	8	1257	c.962T>C	c.(961-963)gTt>gCt	p.V321A	CTIF_ENST00000382998.4_Missense_Mutation_p.V321A	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	321					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGGCCAGAGGTTGAGACAAAA	0.632000													91	230					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79742503	79742503	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:79742503G>A	ENST00000372371.3	-	27	3639	c.3502C>T	c.(3502-3504)Cat>Tat	p.H1168Y		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1168					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCCTCACCATGAACAGCCACA	0.532000													28	46					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49620812	49620812	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:49620812G>A	ENST00000371571.4	-	3	1591	c.1306C>T	c.(1306-1308)Ccg>Tcg	p.P436S	RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	436						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACCTGGCCCGGGGTGCTCCTG	0.642000													37	55					0	0	1	0	0
SERGEF	26297	broad.mit.edu	37	11	17809879	17809879	+	Missense_Mutation	SNP	G	G	A	rs147331551	byFrequency	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:17809879G>A	ENST00000265965.5	-	11	1281	c.1130C>T	c.(1129-1131)cCg>cTg	p.P377L	SERGEF_ENST00000528200.1_3'UTR	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	377					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						AGCCTGCACCGGCTTTGGGGC	0.612000													25	30					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130278672	130278672	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:130278672G>A	ENST00000257359.6	-	7	2620	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	638	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCTTGGCCTCGAACACTTTGA	0.647000													61	80					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263078	140263078	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:140263078C>T	ENST00000289272.2	+	1	1225	c.1225C>T	c.(1225-1227)Ctg>Ttg	p.L409L	PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.L409L|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCATTAGTGCTGGACAGCGC	0.617000													33	206					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94069764	94069764	+	Splice_Site	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:94069764C>T	ENST00000553484.1	+	26	3908	c.3754_splice	c.e26+1	p.P1252_splice	UNC79_ENST00000555664.1_Splice_Site_p.R1252_splice|UNC79_ENST00000256339.4_Splice_Site_p.R1075_splice|UNC79_ENST00000393151.2_Splice_Site_p.R1252_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													18	3					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179665278	179665278	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179665278C>T	ENST00000589042.1	-	4	651	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	TTN_ENST00000591111.1_Missense_Mutation_p.E143K|TTN_ENST00000460472.2_Missense_Mutation_p.E143K|TTN_ENST00000342175.6_Missense_Mutation_p.E143K|TTN_ENST00000342992.6_Missense_Mutation_p.E143K|TTN_ENST00000359218.5_Missense_Mutation_p.E143K|TTN_ENST00000360870.5_Missense_Mutation_p.E143K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	143	Ig-like 2.						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)			CTCTGGATTTCGGCTCCATCC	0.502000													52	81					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35959447	35959447	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:35959447C>T	ENST00000490799.1	-	7	1284	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	SLC26A8_ENST00000355574.2_Missense_Mutation_p.E311K|SLC26A8_ENST00000394602.2_Intron	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	311					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						AGAAATAATTCCATGGGAAAC	0.318000													34	25					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183652188	183652188	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:183652188G>A	ENST00000511685.1	+	16	2986	c.2863G>A	c.(2863-2865)Gat>Aat	p.D955N	TENM3_ENST00000406950.2_Missense_Mutation_p.D955N|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		TCCCAGCTGTGATCTGAGTGG	0.423000													28	32					0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137486537	137486537	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:137486537G>A	ENST00000254900.5	-	22	3388	c.3017C>T	c.(3016-3018)cCc>cTc	p.P1006L		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1006					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)			AGCTACTAAGGGGTCTCCTTT	0.483000													40	58					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52924566	52924566	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr18:52924566C>T	ENST00000354452.3	-	14	1737	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	TCF4_ENST00000564403.2_Missense_Mutation_p.E382K|TCF4_ENST00000564999.1_Missense_Mutation_p.E376K|TCF4_ENST00000544241.2_Missense_Mutation_p.E305K|TCF4_ENST00000537578.1_Missense_Mutation_p.E352K|TCF4_ENST00000568740.1_Missense_Mutation_p.E351K|TCF4_ENST00000568673.1_Missense_Mutation_p.E352K|TCF4_ENST00000543082.1_Missense_Mutation_p.E334K|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000561831.3_Missense_Mutation_p.E216K|TCF4_ENST00000356073.4_Missense_Mutation_p.E376K|TCF4_ENST00000540999.1_Missense_Mutation_p.E352K|TCF4_ENST00000566279.1_Missense_Mutation_p.E316K|TCF4_ENST00000561992.1_Missense_Mutation_p.E246K|TCF4_ENST00000566286.1_Missense_Mutation_p.E373K|TCF4_ENST00000537856.3_Missense_Mutation_p.E246K|TCF4_ENST00000565018.2_Missense_Mutation_p.E376K|TCF4_ENST00000570287.2_Missense_Mutation_p.E216K|TCF4_ENST00000457482.3_Missense_Mutation_p.E216K|TCF4_ENST00000570177.2_Missense_Mutation_p.E246K|TCF4_ENST00000398339.1_Missense_Mutation_p.E478K|TCF4_ENST00000564228.1_Missense_Mutation_p.E305K|TCF4_ENST00000567880.1_Missense_Mutation_p.E316K	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	376					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)		AAGGGTCCTTCATAATTAGGA	0.418000													96	60					0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104048405	104048405	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr9:104048405C>T	ENST00000374874.3	+	4	711	c.272C>T	c.(271-273)tCc>tTc	p.S91F	LPPR1_ENST00000395056.2_Missense_Mutation_p.S91F	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		91						integral to membrane	catalytic activity										GGTGAGATATCCATGTATTTC	0.373000													36	54					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168151478	168151478	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr5:168151478C>T	ENST00000519560.1	-	21	2701	c.2282G>A	c.(2281-2283)gGa>gAa	p.G761E	SLIT3_ENST00000404867.3_Missense_Mutation_p.G761E|SLIT3_ENST00000332966.8_Missense_Mutation_p.G761E	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	761					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)			TAGGTGGTTTCCTTCCAGGTA	0.512000													18	17					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145158826	145158826	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:145158826C>T	ENST00000558170.2	-	7	2040	c.856G>A	c.(856-858)Gag>Aag	p.E286K	ZEB2_ENST00000409487.3_Missense_Mutation_p.E286K|ZEB2_ENST00000303660.4_Missense_Mutation_p.E286K|ZEB2_ENST00000539609.3_Missense_Mutation_p.E262K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	286						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTGCCACACTCTGTGCATTTG	0.438000													41	64					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69621237	69621237	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:69621237G>A	ENST00000337103.4	+	8	2509	c.917G>A	c.(916-918)gGa>gAa	p.G306E	C8orf34_ENST00000325233.3_Missense_Mutation_p.G75E|C8orf34_ENST00000518698.1_Missense_Mutation_p.G417E|C8orf34_ENST00000539993.1_Missense_Mutation_p.G331E			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	331					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)			AGGCTTCAAGGAGACAACCTG	0.363000													14	21					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371746	55371746	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:55371746C>T	ENST00000302231.4	-	1	128	c.104G>A	c.(103-105)gGa>gAa	p.G35E		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	35					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						CACCACAGTTCCCATATAGAA	0.393000													45	55					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151514146	151514146	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chrX:151514146G>A	ENST00000370314.4	-	3	407	c.169C>T	c.(169-171)Cct>Tct	p.P57S	GABRA3_ENST00000370311.1_Missense_Mutation_p.P57S|GABRA3_ENST00000535043.1_Missense_Mutation_p.P57S	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	57					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			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTGTCATCAGGAATATCTGGG	0.438000													41	4					0	0	1	0	0
TIMM10B	26515	broad.mit.edu	37	11	6503075	6503075	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:6503075C>T	ENST00000254616.6	+	2	198	c.128C>T	c.(127-129)gCt>gTt	p.A43V	TIMM10B_ENST00000530751.1_Intron|TIMM10B_ENST00000472836.1_Missense_Mutation_p.A43V	NM_012192.3	NP_036324.1			translocase of inner mitochondrial membrane 10 homolog B (yeast)																		GCTCTGGACGCTGAGGAGGTG	0.577000													22	30					0	0	1	0	0
NSRP1	84081	broad.mit.edu	37	17	28512340	28512340	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr17:28512340T>C	ENST00000247026.5	+	7	1388	c.1325T>C	c.(1324-1326)gTa>gCa	p.V442A	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	442					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						aaaCGAGAGGTAGGTGTTCAG	0.358000													25	27					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242396196	242396196	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:242396196C>T	ENST00000264042.3	+	14	1616	c.1446C>T	c.(1444-1446)tcC>tcT	p.S482S	FARP2_ENST00000373287.4_Silent_p.S482S|FARP2_ENST00000545004.1_Silent_p.S482S	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	482	Pro-rich.				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)		CTTCTCCCTCCAGCCGGAAGA	0.602000													50	75					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31582641	31582641	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr14:31582641G>A	ENST00000399332.1	-	33	6394	c.5906C>T	c.(5905-5907)tCt>tTt	p.S1969F	HECTD1_ENST00000553700.1_Missense_Mutation_p.S1969F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1969					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)		TTGAAGAGTAGAAATGGCCCC	0.378000													68	115					0	0	1	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473046	22473046	+	RNA	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:22473046C>T	ENST00000557788.2	-	0	224																											AGTTGGGGCTCCCACTATGAT	0.572000													37	200					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369378	22369378	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:22369378C>T	ENST00000332663.2	+	1	901	c.803C>T	c.(802-804)tCc>tTc	p.S268F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTCGTTTTCCCTAGATAAA	0.423000													42	135					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146823430	146823430	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:146823430G>A	ENST00000508784.1	-	2	1208	c.981C>T	c.(979-981)gtC>gtT	p.V327V	ZNF827_ENST00000379448.4_Silent_p.V327V|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	327	Pro-rich.				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)					gtggcggAGTGACTTTTTCTG	0.562000													23	36					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5941751	5941751	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:5941751C>T	ENST00000327087.8	-	5	711	c.640G>A	c.(640-642)Gga>Aga	p.G214R	ANO2_ENST00000356134.5_Missense_Mutation_p.G215R|ANO2_ENST00000546188.1_Missense_Mutation_p.G215R			Q9NQ90	ANO2_HUMAN	anoctamin 2	219						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						ATGCTGCCTCCTGCTTTGATC	0.507000													11	16					0	0	1	0	0
DEFB124	245937	broad.mit.edu	37	20	30053355	30053355	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:30053355G>A	ENST00000317676.2	-	2	169	c.170C>T	c.(169-171)tCc>tTc	p.S57F		NM_001037500.1	NP_001032589.1	Q8NES8	DB124_HUMAN	defensin, beta 124	57					defense response to bacterium	extracellular region						Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAATGCATAGGAGAGACAGCA	0.517000													34	47					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87738864	87738864	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:87738864G>A	ENST00000320005.5	-	3	280	c.233C>T	c.(232-234)tCc>tTc	p.S78F	RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	78					signal transduction|visual perception	integral to membrane	cGMP binding	p.S78F(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATCTCCAGAGGAATTTTTCTT	0.428000													91	107					0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44182286	44182286	+	Silent	SNP	C	C	T	rs147262068		TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:44182286C>T	ENST00000291539.6	+	14	1239	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	PDE9A_ENST00000335440.6_Silent_p.L291L|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335512.4_Silent_p.L333L|PDE9A_ENST00000398224.3_Silent_p.L266L|PDE9A_ENST00000398225.3_Silent_p.L352L|PDE9A_ENST00000539837.1_Silent_p.L265L|PDE9A_ENST00000398229.3_Silent_p.L259L|PDE9A_ENST00000398236.3_Silent_p.L307L|PDE9A_ENST00000398227.3_Silent_p.L233L|PDE9A_ENST00000328862.6_Silent_p.L367L|PDE9A_ENST00000398234.3_Silent_p.L292L|PDE9A_ENST00000380328.2_Silent_p.L340L|PDE9A_ENST00000398232.3_Silent_p.L326L|PDE9A_ENST00000349112.3_Silent_p.L265L	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	393	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						TCCAGATCCTCGCCGAGCCTG	0.622000													24	30					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28880898	28880898	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr13:28880898G>A	ENST00000282397.4	-	29	3983	c.3732C>T	c.(3730-3732)ggC>ggT	p.G1244G	FLT1_ENST00000543394.1_Silent_p.G267G|FLT1_ENST00000540678.1_Silent_p.G462G	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1244					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)	TGCTGCTGTCGCCCTGGTAGT	0.552000													27	23					0	0	1	0	0
BSCL2	26580	broad.mit.edu	37	11	62458847	62458847	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr11:62458847C>T	ENST00000433053.1	-	8	1466	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	BSCL2_ENST00000407022.3_Missense_Mutation_p.A240T|BSCL2_ENST00000405837.1_Missense_Mutation_p.A304T|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000403550.1_Missense_Mutation_p.A240T|BSCL2_ENST00000360796.5_Missense_Mutation_p.A304T|BSCL2_ENST00000421906.1_Missense_Mutation_p.A240T|BSCL2_ENST00000278893.7_Intron			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	240					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						AAGTTGCTGGCAACACCTATG	0.557000													27	44					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179427599	179427599	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179427599A>T	ENST00000589042.1	-	326	83484	c.83260T>A	c.(83260-83262)Tcc>Acc	p.S27754T	TTN_ENST00000591111.1_Missense_Mutation_p.S26113T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S18689T|TTN_ENST00000342175.6_Missense_Mutation_p.S18881T|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S25186T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S18814T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26113	Fibronectin type-III 102.		F -> L.				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)			GCTGTTTTGGAGCCACTATTA	0.403000													18	21					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10970963	10970963	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr3:10970963G>A	ENST00000254488.2	+	10	1375	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	437					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)		TTACCGGCGGGAGCTGCTCAT	0.567000													78	67					0	0	1	0	0
ADRB3	155	broad.mit.edu	37	8	37823755	37823755	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:37823755G>A	ENST00000345060.3	-	1	728	c.233C>T	c.(232-234)tCg>tTg	p.S78L		NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	78					carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	TGCGGCCAGCGAAGTCACGAA	0.692000													13	15					0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95557177	95557177	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:95557177G>A	ENST00000371418.4	+	8	1551	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	LGI1_ENST00000542308.1_Missense_Mutation_p.D383N|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	431					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TAACATGGAGGATGTGTACGC	0.418000													51	72					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61654280	61654280	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:61654280G>A	ENST00000423902.2	+	2	768	c.289G>A	c.(289-291)Gga>Aga	p.G97R	CHD7_ENST00000525508.1_Missense_Mutation_p.G97R|CHD7_ENST00000524602.1_Missense_Mutation_p.G97R	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	97					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			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)			CCCTGGGAACGGACTCGCGTC	0.527000													19	22					0	0	1	0	0
MBL1P	8512	broad.mit.edu	37	10	81680759	81680759	+	RNA	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:81680759G>A	ENST00000480805.1	+	0	826					NR_002724.2																						GGGCCCCCAGGAAACACAGGG	0.562000													11	8					0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176982186	176982186	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:176982186G>A	ENST00000249501.4	+	1	880	c.625G>A	c.(625-627)Gag>Aag	p.E209K	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	209						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GAGCGGCCAGGAGCCCACCAA	0.647000													18	38					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66030131	66030131	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:66030131G>A	ENST00000443035.3	-	7	1169	c.954C>T	c.(952-954)caC>caT	p.H318H	DENND4A_ENST00000431932.2_Silent_p.H318H	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	318	DENN.				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						AAAAAGGCCAGTGAGAAAGAA	0.383000													9	5					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	54025323	54025323	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:54025323C>T	ENST00000514921.1	+	7	2445	c.2332C>T	c.(2332-2334)Cct>Tct	p.P778S	MLIP_ENST00000370877.2_Intron|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.P789S|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000274897.5_Missense_Mutation_p.P254S			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	254						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GCTCTATTTTCCTGCACAGCT	0.418000													27	61					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76744407	76744407	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:76744407C>T	ENST00000369963.3	-	2	354	c.165G>A	c.(163-165)gaG>gaA	p.E55E	IMPG1_ENST00000369950.3_Silent_p.E133E			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)				GGCAGAAGGTCTCCTGCTGGC	0.498000													36	59					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157985097	157985097	+	Silent	SNP	G	G	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:157985097G>A	ENST00000389413.3	-	5	574	c.471C>T	c.(469-471)ttC>ttT	p.F157F	PTPRN2_ENST00000389416.4_Silent_p.F140F|PTPRN2_ENST00000389418.4_Silent_p.F157F|PTPRN2_ENST00000404321.2_Silent_p.F180F|PTPRN2_ENST00000409483.1_Silent_p.F119F	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	157						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)		GGGCCTCCAGGAAGGGCAGGT	0.677000													20	37					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76794427	76794427	+	Silent	SNP	C	C	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr4:76794427C>T	ENST00000286719.7	-	12	1715	c.1359G>A	c.(1357-1359)gaG>gaA	p.E453E		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	453	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTTGCAGCCCTCTTGAGCCA	0.438000													32	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179422000	179422001	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr2:179422000_179422001insCT	ENST00000589042.1	-	329	88212_88213	c.87988_87989insAG	c.(87988-87990)cttfs	p.L29330fs	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.L20457fs|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.L20265fs|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.L20390fs|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.L26762fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.L27689fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27689	Ig-like 134.						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)			AATTGCCAAGACTGGTTCAGAA	0.401													27	34	---	---	---	---					
SYNCRIP	10492	broad.mit.edu	37	6	86324884	86324884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr6:86324884delA	ENST00000355238.6	-	11	1668	c.1462delT	c.(1462-1464)atfs	p.Y488fs	RP11-321N4.5_ENST00000503906.1_Frame_Shift_Del_p.V23fs|SYNCRIP_ENST00000369622.3_Frame_Shift_Del_p.Y488fs	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	488	3 X 4 AA repeats of Y-Y-G-Y.|8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AAATCTTCATAACCATAGTAT	0.448													59	47	---	---	---	---					
TAS2R3	50831	broad.mit.edu	37	7	141464672	141464674	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr7:141464672_141464674delCTT	ENST00000247879.2	+	1	776_778	c.714_716delCTT	c.(712-717)tcc>tc	p.SF238del	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	238					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					tcatcctttccttcttctttctc	0.448													26	31	---	---	---	---					
SLC45A4	57210	broad.mit.edu	37	8	142222497	142222497	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr8:142222497delA	ENST00000519067.1	-	7	2250	c.1947delT	c.(1945-1947)tcfs	p.S649fs	SLC45A4_ENST00000024061.3_Frame_Shift_Del_p.S649fs|SLC45A4_ENST00000433583.2_Frame_Shift_Del_p.S642fs|SLC45A4_ENST00000517878.1_Frame_Shift_Del_p.S700fs			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	700					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AAGAGCCCACAGAGGCCACCA	0.622													28	32	---	---	---	---					
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs138084841	by1000genomes	TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>AGGAGGggg	p.428_429insRR	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619													4	6	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6710107	6710108	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:6710107_6710108insT	ENST00000309577.6	-	7	1074_1075	c.911_912insA	c.(910-912)acgfs	p.T304fs	CHD4_ENST00000544484.1_Frame_Shift_Ins_p.T301fs|CHD4_ENST00000544040.1_Frame_Shift_Ins_p.T297fs|CHD4_ENST00000357008.2_Frame_Shift_Ins_p.T304fs			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	304					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATCTCTTACGCTTGGAACCAAA	0.520													92	130	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55420256	55420256	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr12:55420256delG	ENST00000242994.3	+	2	411	c.33delG	c.(31-33)atfs	p.M11fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	11					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CCAAGGAGATGGGAGAGCTAG	0.418													31	40	---	---	---	---					
LRRK1	79705	broad.mit.edu	37	15	101595186	101595187	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr15:101595186_101595187insA	ENST00000284395.5	+	28	4481_4482	c.4081_4082insA	c.(4081-4083)aaafs	p.K1361fs	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Frame_Shift_Ins_p.K1364fs			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1364	Protein kinase.				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)			CATGCTCACCCAAAAAATAGCC	0.411													29	83	---	---	---	---					
C19orf26	255057	broad.mit.edu	37	19	1231251	1231251	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:1231251delG	ENST00000590083.1	-	9	1295	c.1003delC	c.(1003-1005)agfs	p.Q335fs	C19orf26_ENST00000215376.6_Frame_Shift_Del_p.Q329fs|C19orf26_ENST00000382477.2_Frame_Shift_Del_p.Q355fs			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	355						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CGCTGCCGCTGGAAGTGGTGC	0.677										HNSCC(14;0.022)			30	32	---	---	---	---					
SLC1A5	6510	broad.mit.edu	37	19	47290702	47290702	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr19:47290702delT	ENST00000542575.2	-	1	1149	c.521delA	c.(520-522)atfs	p.N174fs		NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	174					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GCTGGGGGCATTTTCGGCACT	0.701													2	4	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													2	4	---	---	---	---					
C20orf112	140688	broad.mit.edu	37	20	31041120	31041120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr20:31041120delT	ENST00000359676.5	-	5	894	c.752delA	c.(751-753)acfs	p.N251fs	RP5-1184F4.5_ENST00000442179.1_RNA|C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN	chromosome 20 open reading frame 112	251										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CTCCATGCCGTTCTTCTTCAT	0.647													22	29	---	---	---	---					
SAMSN1	64092	broad.mit.edu	37	21	15918538	15918539	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:15918538_15918539insT	ENST00000400566.1	-	1	125_126	c.44_45insA	c.(43-45)ccafs	p.P15fs	SAMSN1_ENST00000285670.2_Intron|SAMSN1_ENST00000400564.1_Frame_Shift_Ins_p.P15fs	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	15					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTGGTTTTTGATGTTTCTCCTT	0.322													26	38	---	---	---	---					
KCNJ6	3763	broad.mit.edu	37	21	39086751	39086752	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr21:39086751_39086752insA	ENST00000400482.3	-	3	1297_1298	c.708_709insT	c.(706-711)tctcagfs	p.Q237fs	KCNJ6_ENST00000288309.6_Frame_Shift_Ins_p.Q237fs	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	237					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)	TTGGCTCTGATGGAAGCCTCCA	0.530													44	57	---	---	---	---					
TOB2	10766	broad.mit.edu	37	22	41832492	41832492	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EB-A41A-01A-11D-A24R-08	TCGA-EB-A41A-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3a04461-8e79-46d0-8176-29c125735ad8	6463b7a1-64d5-4853-8b37-19ca2a9d9af5	g.chr22:41832492delA	ENST00000327492.3	-	2	1564	c.858delT	c.(856-858)ttfs	p.F286fs		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	286				QGSGTPGPFGGSGAGTCNSSSFDMAQVFGGGANSLFLEKT -> RAAAPQARLEAVGLAPATAAALTWPRYLEVVPTASSWR RH (in Ref. 1; BAA10971).	female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CACTGCCTCCAAACGGGCCTG	0.607													24	1	---	---	---	---