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
ZBTB9	221504	broad.mit.edu	37	6	33423586	33423586	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:33423586C>T	ENST00000395064.2	+	2	977	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	237	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GACTCCTCAGCCCCAGAGAGT	0.562000													22	29					0	0	0.055883	0	0
RYR3	6263	broad.mit.edu	37	15	33895352	33895352	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr15:33895352G>A	ENST00000389232.4	+	18	2021	c.1951G>A	c.(1951-1953)Gcg>Acg	p.A651T	RYR3_ENST00000415757.3_Missense_Mutation_p.A651T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	651	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTGGGAGTCGCGGAGGGCTC	0.527000													19	105					0	0	0.038395	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479590	156479590	+	Missense_Mutation	SNP	G	G	A	rs114193906	by1000genomes	TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:156479590G>A	ENST00000339252.3	-	3	987	c.455C>T	c.(454-456)aCg>aTg	p.T152M	HAVCR1_ENST00000522693.1_Missense_Mutation_p.T152M|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T152M|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T152M|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T152M	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	152	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTCGTTGTCGTTGGAACAGT	0.473000													44	294					0	0	0.139131	0	0
LILRB1	10859	broad.mit.edu	37	19	55144499	55144499	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:55144499C>A	ENST00000396331.1	+	8	1348	c.991C>A	c.(991-993)Cag>Aag	p.Q331K	LILRB1_ENST00000396332.4_Missense_Mutation_p.Q331K|LILRB1_ENST00000434867.2_Missense_Mutation_p.Q331K|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q331K|LILRB1_ENST00000448689.1_Missense_Mutation_p.Q331K|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q331K|LILRB1_ENST00000396327.3_Missense_Mutation_p.Q331K|LILRB1_ENST00000427581.2_Missense_Mutation_p.Q367K|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q331K|LILRB1_ENST00000396317.1_Missense_Mutation_p.Q331K|LILRB1_ENST00000396321.2_Missense_Mutation_p.Q331K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	331	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)		CCTCTCGGTGCAGCCGGGCCC	0.612000										HNSCC(37;0.09)			15	38					1.33834e-09	1.57109e-09	0.043863	1	0
ABCA12	26154	broad.mit.edu	37	2	215840653	215840653	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:215840653C>T	ENST00000272895.7	-	34	5456	c.5237G>A	c.(5236-5238)gGt>gAt	p.G1746D	ABCA12_ENST00000389661.4_Missense_Mutation_p.G1428D	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1746					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCAATGAGACCTTTCCAGTT	0.498000													14	30					0	0	0.119110	0	0
SERPINE1	5054	broad.mit.edu	37	7	100778862	100778862	+	Silent	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr7:100778862C>T	ENST00000223095.4	+	6	1144	c.987C>T	c.(985-987)ttC>ttT	p.F329F	SERPINE1_ENST00000445463.2_Silent_p.F314F	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	329					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	AGGCTGACTTCACGAGTCTTT	0.527000													33	68					0	0	0.144211	0	0
TERT	7015	broad.mit.edu	37	5	1268652	1268652	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:1268652C>T	ENST00000296820.5	-	7	2440	c.2383G>A	c.(2383-2385)Ggg>Agg	p.G795R	TERT_ENST00000508104.2_Missense_Mutation_p.G795R|TERT_ENST00000334602.6_Silent_p.A855A|TERT_ENST00000310581.5_Silent_p.A855A			O14746	TERT_HUMAN	telomerase reverse transcriptase	0	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCGAATCCCCGCAAACAGCT	0.602000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				5	43					0	0	0.014758	0	0
RBP3	5949	broad.mit.edu	37	10	48387849	48387849	+	Missense_Mutation	SNP	C	C	T	rs149031179		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:48387849C>T	ENST00000224600.4	-	1	3142	c.3029G>A	c.(3028-3030)cGc>cAc	p.R1010H		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1010	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.R1010H(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCCAGGAATGCGGTCCTTGGC	0.597000													4	116					0	0	0.009096	0	0
AMPH	273	broad.mit.edu	37	7	38433623	38433623	+	Silent	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr7:38433623G>T	ENST00000356264.2	-	18	1805	c.1590C>A	c.(1588-1590)ctC>ctA	p.L530L	AMPH_ENST00000325590.5_Silent_p.L488L|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Silent_p.L488L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	530					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CTGTTGCTTCGAGCTCCTCTG	0.562000													40	61					1.59361e-14	1.97072e-14	0.092188	1	0
DACT1	51339	broad.mit.edu	37	14	59112773	59112773	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr14:59112773A>G	ENST00000395153.3	+	4	1468	c.1321A>G	c.(1321-1323)Agc>Ggc	p.S441G	DACT1_ENST00000541264.2_Missense_Mutation_p.S197G|DACT1_ENST00000395151.3_Missense_Mutation_p.S197G|DACT1_ENST00000556859.1_Missense_Mutation_p.S197G|DACT1_ENST00000335867.4_Missense_Mutation_p.S478G	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	478					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCCTAAGGAAAGCGCTCAGCT	0.577000													100	47					0	0	0.139131	0	0
SLC45A1	50651	broad.mit.edu	37	1	8386047	8386047	+	Missense_Mutation	SNP	C	C	A	rs144175783		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:8386047C>A	ENST00000471889.1	+	4	1045	c.660C>A	c.(658-660)gaC>gaA	p.D220E	SLC45A1_ENST00000377479.2_Missense_Mutation_p.D254E|SLC45A1_ENST00000289877.8_Missense_Mutation_p.D220E			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	220					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ACATGATGGACGTGTGCAGCC	0.657000													28	42					1.26612e-14	1.57778e-14	0.059317	1	0
TMEM145	284339	broad.mit.edu	37	19	42820842	42820842	+	Silent	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:42820842C>T	ENST00000598766.1	+	10	828	c.828C>T	c.(826-828)ctC>ctT	p.L276L	TMEM145_ENST00000301204.3_Silent_p.L252L			Q8NBT3	TM145_HUMAN	transmembrane protein 145	252						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CCAGCTTCCTCATCTTCCTGC	0.662000													5	57					0	0	0.014758	0	0
KCNH3	23416	broad.mit.edu	37	12	49943928	49943928	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:49943928G>A	ENST00000257981.6	+	10	1994	c.1734G>A	c.(1732-1734)ctG>ctA	p.L578L		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	578					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						AGGAGGTCCTGCAGCTGCCAC	0.701000													13	23					0	0	0.132662	0	0
ASCL1	429	broad.mit.edu	37	12	103352676	103352676	+	Silent	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:103352676T>C	ENST00000266744.3	+	1	1213	c.654T>C	c.(652-654)tcT>tcC	p.S218S		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	218					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						ACGAGGGCTCTTACGACCCGC	0.627000													13	36					0	0	0.093190	0	0
MGST1	4257	broad.mit.edu	37	12	16516968	16516968	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:16516968A>G	ENST00000396209.1	+	4	604	c.461A>G	c.(460-462)tAc>tGc	p.Y154C	MGST1_ENST00000540056.1_3'UTR|MGST1_ENST00000535309.1_Intron|MGST1_ENST00000010404.2_Missense_Mutation_p.Y154C|MGST1_ENST00000396210.3_Missense_Mutation_p.Y154C|MGST1_ENST00000396207.1_Missense_Mutation_p.Y154C	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	154					protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	AGTAAATTGTACCTGTAAAGA	0.358000													14	29					0	0	0.132662	0	0
TRPV4	59341	broad.mit.edu	37	12	110246113	110246113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:110246113C>A	ENST00000418703.2	-	2	641	c.547G>T	c.(547-549)Gag>Tag	p.E183*	TRPV4_ENST00000544971.1_Nonsense_Mutation_p.E183*|TRPV4_ENST00000541794.1_Nonsense_Mutation_p.E183*|TRPV4_ENST00000537083.1_Nonsense_Mutation_p.E183*|TRPV4_ENST00000536838.1_Nonsense_Mutation_p.E149*|TRPV4_ENST00000392719.2_Nonsense_Mutation_p.E183*|TRPV4_ENST00000346520.2_Nonsense_Mutation_p.E183*|TRPV4_ENST00000261740.2_Nonsense_Mutation_p.E183*	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	183			E -> K (found in a patient with spondyloepiphyseal dysplasia Maroteaux type).		actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CGAAACTCCTCATCAGTTAGG	0.612000													6	24					2.0095e-06	2.19959e-06	0.029380	1	0
NCALD	83988	broad.mit.edu	37	8	102731518	102731518	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:102731518C>A	ENST00000395923.1	-	4	799	c.340G>T	c.(340-342)Ggc>Tgc	p.G114C	NCALD_ENST00000220931.6_Missense_Mutation_p.G114C|NCALD_ENST00000311028.3_Missense_Mutation_p.G114C|NCALD_ENST00000519508.2_Missense_Mutation_p.G114C|NCALD_ENST00000521599.1_Missense_Mutation_p.G114C|NCALD_ENST00000522951.1_Missense_Mutation_p.G114C	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	114	EF-hand 3.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CTGATATAGCCATTTCCGTCC	0.468000													41	80					9.62906e-15	1.20923e-14	0.086207	1	0
CEP164	22897	broad.mit.edu	37	11	117280412	117280412	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:117280412G>T	ENST00000278935.3	+	30	3974	c.3827G>T	c.(3826-3828)aGc>aTc	p.S1276I	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1276					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGCCAGCTGAGCAGTGTCCTC	0.642000													52	100					1.54043e-34	2.09706e-34	0.139131	1	0
PKDREJ	10343	broad.mit.edu	37	22	46655440	46655440	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr22:46655440G>A	ENST00000253255.5	-	1	3779	c.3780C>T	c.(3778-3780)acC>acT	p.T1260T		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1260	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCACGTCGCTGGTACTCACAG	0.458000													28	56					0	0	0.125774	0	0
TAS1R3	83756	broad.mit.edu	37	1	1269065	1269065	+	Missense_Mutation	SNP	C	C	T	rs149144084		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:1269065C>T	ENST00000339381.5	+	6	1812	c.1780C>T	c.(1780-1782)Cgg>Tgg	p.R594W		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	594					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CGTTCACCATCGGGACAGCCC	0.687000													4	22					0	0	0.009096	0	0
USP28	57646	broad.mit.edu	37	11	113711431	113711431	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:113711431G>A	ENST00000003302.4	-	5	491	c.423C>T	c.(421-423)cgC>cgT	p.R141R	USP28_ENST00000545540.1_Silent_p.R16R|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Silent_p.R141R|USP28_ENST00000537706.1_Silent_p.R141R	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	141					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGACTTCACAGCGTTTTCTCT	0.428000													17	36					0	0	0.033300	0	0
DCAF15	90379	broad.mit.edu	37	19	14069909	14069909	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:14069909G>A	ENST00000254337.6	+	7	858	c.837G>A	c.(835-837)gcG>gcA	p.A279A		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	279										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCCCCCTGGCGCCTGCCAGCC	0.657000													142	40					0	0	0.139131	0	0
ZNF561	93134	broad.mit.edu	37	19	9721791	9721791	+	Silent	SNP	T	T	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:9721791T>A	ENST00000302851.3	-	6	909	c.546A>T	c.(544-546)ccA>ccT	p.P182P	ZNF561_ENST00000424629.1_Silent_p.P113P|ZNF561_ENST00000354661.4_Silent_p.P46P|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000495503.1_5'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						CAGCAAGACCTGGAGTTAGAG	0.388000													11	42					0	0	0.080935	0	0
TMEM59L	25789	broad.mit.edu	37	19	18726931	18726931	+	Silent	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:18726931G>T	ENST00000600490.1	+	5	740	c.555G>T	c.(553-555)gtG>gtT	p.V185V	TMEM59L_ENST00000262817.3_Silent_p.V185V			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	185						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						AAGTGGTGGTGTTTCAGGTGA	0.527000													39	52					1.76056e-25	2.37675e-25	0.124865	1	0
LRRC4C	57689	broad.mit.edu	37	11	40136107	40136107	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:40136107G>T	ENST00000278198.2	-	2	3699	c.1736C>A	c.(1735-1737)aCa>aAa	p.T579K	LRRC4C_ENST00000528697.1_Missense_Mutation_p.T579K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T579K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.T579K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	579					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)				TTCCATGGGTGTGTCTCCCGT	0.448000													31	73					1.55811e-20	2.0356e-20	0.134883	1	0
POLR1A	25885	broad.mit.edu	37	2	86327213	86327213	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:86327213C>T	ENST00000263857.6	-	2	538	c.160G>A	c.(160-162)Gct>Act	p.A54T	POLR1A_ENST00000409681.1_Missense_Mutation_p.A54T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	54					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGGCCCAAAGCTAAATCGTAC	0.517000													14	30					0	0	0.119110	0	0
LRP6	4040	broad.mit.edu	37	12	12337036	12337036	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:12337036G>A	ENST00000261349.4	-	5	930	c.854C>T	c.(853-855)cCa>cTa	p.P285L	LRP6_ENST00000543091.1_Missense_Mutation_p.P285L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	285	EGF-like 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AATTCCACATGGATTTGTGGC	0.393000													10	38					0	0	0.069234	0	0
APOB	338	broad.mit.edu	37	2	21234136	21234136	+	Silent	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:21234136G>T	ENST00000233242.1	-	26	5731	c.5604C>A	c.(5602-5604)ctC>ctA	p.L1868L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1868					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)	TGTCTGTGTTGAGCCGATGGC	0.458000													29	83					3.73988e-18	4.80842e-18	0.116897	1	0
BAI3	577	broad.mit.edu	37	6	70071099	70071099	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:70071099C>T	ENST00000370598.1	+	29	4755	c.3934C>T	c.(3934-3936)Ccc>Tcc	p.P1312S	BAI3_ENST00000238918.8_Missense_Mutation_p.P518S|BAI3_ENST00000546190.1_Missense_Mutation_p.P276S	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1312					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)				TATTGTGATGCCCAGAAGTTC	0.398000													10	36					0	0	0.080935	0	0
ZNF536	9745	broad.mit.edu	37	19	30935385	30935385	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:30935385G>C	ENST00000355537.3	+	2	1063	c.916G>C	c.(916-918)Gac>Cac	p.D306H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	306					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)					CACGTTGTGCGACTTCGCGGC	0.642000													44	67					0	0	0.131918	0	0
CDH3	1001	broad.mit.edu	37	16	68716358	68716358	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:68716358G>T	ENST00000264012.4	+	9	1694	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*	CDH3_ENST00000429102.2_Nonsense_Mutation_p.E384*|CDH3_ENST00000581171.1_Nonsense_Mutation_p.E329*	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	384	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CACCCACCCTGAGAGCAACCA	0.592000													19	52					3.62473e-10	4.34968e-10	0.062417	1	0
PC	5091	broad.mit.edu	37	11	66617739	66617739	+	Silent	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:66617739G>T	ENST00000393960.1	-	19	2951	c.2670C>A	c.(2668-2670)gtC>gtA	p.V890V	PC_ENST00000529047.1_Silent_p.V10V|PC_ENST00000393955.2_Silent_p.V890V|PC_ENST00000393958.2_Silent_p.V890V	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	890					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGGCCTTCTTGACCTCCTTGA	0.597000													8	36					2.17888e-05	2.32222e-05	0.058154	1	0
FAM47A	158724	broad.mit.edu	37	X	34149650	34149650	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:34149650G>T	ENST00000346193.3	-	1	797	c.746C>A	c.(745-747)cCg>cAg	p.P249Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	249	Pro-rich.									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						GGGAGGCCCCGGGCGGATATG	0.632000													12	11					2.27111e-07	2.53738e-07	0.093190	1	0
MACF1	23499	broad.mit.edu	37	1	39759235	39759235	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:39759235G>A	ENST00000564288.1	+	18	2875	c.2098G>A	c.(2098-2100)Gca>Aca	p.A700T	MACF1_ENST00000539005.1_Missense_Mutation_p.A705T|MACF1_ENST00000317713.7_Missense_Mutation_p.A705T|MACF1_ENST00000545844.1_Missense_Mutation_p.A705T|MACF1_ENST00000361689.2_Missense_Mutation_p.A705T|MACF1_ENST00000372915.3_Missense_Mutation_p.A705T|MACF1_ENST00000567887.1_Missense_Mutation_p.A737T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	705	Poly-Glu.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAGGAACTAGCATATGACTG	0.443000													12	51					0	0	0.093190	0	0
KRT14	3861	broad.mit.edu	37	17	39742810	39742810	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:39742810C>A	ENST00000167586.6	-	1	363	c.277G>T	c.(277-279)Ggt>Tgt	p.G93C		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	93	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				aagccagcaccaaggccacca	0.627000													5	16					3.07112e-06	3.33907e-06	0.080935	1	0
KLF17	128209	broad.mit.edu	37	1	44596220	44596220	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:44596220C>G	ENST00000372299.3	+	3	1020	c.962C>G	c.(961-963)tCa>tGa	p.S321*	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	321					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GAAAGTTGTTCATGGTCTTTC	0.463000													3	76					0	0	0.115264	0	0
ARHGDIB	397	broad.mit.edu	37	12	15103494	15103494	+	Silent	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:15103494C>A	ENST00000228945.4	-	2	297	c.153G>T	c.(151-153)acG>acT	p.T51T	ARHGDIB_ENST00000541546.1_Silent_p.T51T|ARHGDIB_ENST00000541644.1_Silent_p.T51T	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	51					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						CTCCCAGCAGCGTTTTCTTGT	0.483000													21	85					1.10923e-09	1.31165e-09	0.076483	1	0
TRGC2	6967	broad.mit.edu	37	7	38288989	38288989	+	RNA	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr7:38288989G>T	ENST00000436911.2	-	0	184																											TAGTCTTCATGGTGTTCCCCT	0.398000													55	159					2.3441e-25	3.13838e-25	0.139131	1	0
NLRC5	84166	broad.mit.edu	37	16	57111883	57111883	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:57111883A>T	ENST00000262510.6	+	43	5257	c.5032A>T	c.(5032-5034)Aca>Tca	p.T1678S	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Missense_Mutation_p.T1649S|NLRC5_ENST00000539144.1_Missense_Mutation_p.T1649S	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1678					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)				GGGGGATCCCACAGCCCTGGG	0.672000													7	30					0	0	0.047766	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3763444	3763444	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:3763444T>A	ENST00000440314.2	-	10	1453	c.980A>T	c.(979-981)cAg>cTg	p.Q327L	EFCAB4B_ENST00000252322.1_Missense_Mutation_p.Q327L|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.Q327L	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	327					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CTGAGCATCCTGGAGCTCCCA	0.557000													17	34					0	0	0.033300	0	0
CYP2W1	54905	broad.mit.edu	37	7	1027134	1027134	+	Silent	SNP	C	C	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr7:1027134C>G	ENST00000340150.6	+	7	964	c.942C>G	c.(940-942)gcC>gcG	p.A314A	CYP2W1_ENST00000308919.7_Silent_p.A370A			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	370					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCACCGCGGCCGACACACAGC	0.711000													3	1					0	0	0.009096	0	0
NUP153	9972	broad.mit.edu	37	6	17649453	17649453	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:17649453G>A	ENST00000262077.2	-	12	1473	c.1474C>T	c.(1474-1476)Cct>Tct	p.P492S	NUP153_ENST00000537253.1_Missense_Mutation_p.P523S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	492					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTGATCTCAGGGGAACTAAAA	0.373000													21	53					0	0	0.062417	0	0
ATP2C2	9914	broad.mit.edu	37	16	84438840	84438840	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:84438840A>G	ENST00000416219.2	+	3	406	c.317A>G	c.(316-318)tAc>tGc	p.Y106C	ATP2C2_ENST00000262429.4_Missense_Mutation_p.Y106C			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	106					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TGGAAGAAATACCTGGATCAG	0.527000													6	28					0	0	0.021553	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3469400	3469400	+	Silent	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:3469400G>T	ENST00000324266.5	+	9	1905	c.1710G>T	c.(1708-1710)tcG>tcT	p.S570S	TRAPPC12_ENST00000382110.2_Silent_p.S570S|TRAPPC12_ENST00000469147.1_3'UTR	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	570							binding										CGTATCATTCGGTTATCAAGT	0.532000													24	51					4.7796e-09	5.53068e-09	0.099896	1	0
ATP7A	538	broad.mit.edu	37	X	77301812	77301812	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:77301812G>C	ENST00000341514.6	+	23	4403	c.4248G>C	c.(4246-4248)gaG>gaC	p.E1416D	ATP7A_ENST00000350425.4_Missense_Mutation_p.E419D|ATP7A_ENST00000343533.5_Missense_Mutation_p.E1338D	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1416					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CAACTTACGAGAGTTATGAAC	0.408000													7	80					0	0	0.047766	0	0
PLCD4	84812	broad.mit.edu	37	2	219494358	219494358	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:219494358T>C	ENST00000450993.2	+	8	1430	c.1091T>C	c.(1090-1092)gTg>gCg	p.V364A	PLCD4_ENST00000417849.1_Missense_Mutation_p.V364A|PLCD4_ENST00000432688.1_Missense_Mutation_p.V364A	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	364	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAAGATGTCGTGGCCACAGTA	0.592000													10	22					0	0	0.093190	0	0
CD84	8832	broad.mit.edu	37	1	160523210	160523210	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:160523210G>A	ENST00000368054.3	-	4	753	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	CD84_ENST00000368048.3_Silent_p.L240L|CD84_ENST00000311224.4_Silent_p.L240L|CD84_ENST00000368051.3_Silent_p.L240L|CD84_ENST00000534968.1_Silent_p.L126L|RP11-528G1.2_ENST00000446952.1_RNA	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	240					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACTGAAGACAGAATGAGAACA	0.468000													4	38					0	0	0.014758	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	RNA	SNP	C	C	T	rs143443709	by1000genomes	TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:141070139C>T	ENST00000503395.1	+	0	1219																		p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667000													6	109					0	0	0.047766	0	0
HABP4	22927	broad.mit.edu	37	9	99227713	99227713	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:99227713A>G	ENST00000375249.4	+	3	682	c.607A>G	c.(607-609)Aga>Gga	p.R203G	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	203					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CCCTGGGAACAGAGTTTTTGA	0.478000													63	96					0	0	0.139131	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857484	9857484	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:9857484C>A	ENST00000396573.2	-	14	4226	c.3917G>T	c.(3916-3918)aGg>aTg	p.R1306M	GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1306M|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1306M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1306					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)	CCGGGAGGGCCTGCTAAGGTC	0.493000													39	101					6.2361e-21	8.28073e-21	0.098360	1	0
APBA1	320	broad.mit.edu	37	9	72071296	72071296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:72071296C>T	ENST00000265381.4	-	8	1877	c.1655G>A	c.(1654-1656)gGg>gAg	p.G552E	APBA1_ENST00000470082.1_5'UTR	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	552	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						AACGATGTTCCCAATGTCCGC	0.577000													170	269					0	0	0.139131	0	0
NOTCH1	4851	broad.mit.edu	37	9	139418287	139418287	+	Silent	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:139418287C>A	ENST00000277541.6	-	3	360	c.285G>T	c.(283-285)ggG>ggT	p.G95G	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	95	EGF-like 2.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCAGAGGGGCCCAGAGAAGC	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			10	19					3.86212e-05	4.06275e-05	0.069234	1	0
TRANK1	9881	broad.mit.edu	37	3	36897366	36897366	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr3:36897366A>T	ENST00000301807.6	-	12	3962	c.2065T>A	c.(2065-2067)Tca>Aca	p.S689T	TRANK1_ENST00000428977.2_Missense_Mutation_p.S689T|TRANK1_ENST00000429976.2_Missense_Mutation_p.S1239T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1239					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						GGAATGGTTGACTCTTCCTGT	0.473000													46	43					0	0	0.111260	0	0
SEC16B	89866	broad.mit.edu	37	1	177930830	177930830	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:177930830C>A	ENST00000308284.6	-	6	771	c.682G>T	c.(682-684)Gag>Tag	p.E228*	RP4-798P15.3_ENST00000528461.1_Nonsense_Mutation_p.E228*|SEC16B_ENST00000464631.1_Nonsense_Mutation_p.E228*|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	228					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						AGACCAGACTCACGCTGCTGG	0.512000													6	20					0.0215528	0.0220984	0.021553	1	0
TCTE1	202500	broad.mit.edu	37	6	44247986	44247986	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:44247986G>A	ENST00000371505.4	-	5	1560	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W	TCTE1_ENST00000371504.1_Missense_Mutation_p.R177W|TCTE1_ENST00000371503.3_Missense_Mutation_p.R177W|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	480								p.R480W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCAGGGCCCGCTGGCGGGCT	0.577000													6	62					0	0	0.029380	0	0
ZNF561	93134	broad.mit.edu	37	19	9721793	9721793	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:9721793G>A	ENST00000302851.3	-	6	907	c.544C>T	c.(544-546)Cca>Tca	p.P182S	ZNF561_ENST00000424629.1_Missense_Mutation_p.P113S|ZNF561_ENST00000354661.4_Missense_Mutation_p.P46S|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000495503.1_5'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GCAAGACCTGGAGTTAGAGTA	0.388000													11	43					0	0	0.080935	0	0
UNC13C	440279	broad.mit.edu	37	15	54786889	54786889	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr15:54786889C>T	ENST00000545554.1	+	19	5017	c.5017C>T	c.(5017-5019)Cgt>Tgt	p.R1673C	UNC13C_ENST00000537900.1_Missense_Mutation_p.R1671C|UNC13C_ENST00000260323.11_Missense_Mutation_p.R1673C			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1673	MHD1.				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)		TGAATATGTGCGTGAACTTCC	0.338000													6	104					0	0	0.029380	0	0
RIMS1	22999	broad.mit.edu	37	6	72960961	72960961	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:72960961A>T	ENST00000264839.7	+	15	2588	c.2588A>T	c.(2587-2589)cAt>cTt	p.H863L	RIMS1_ENST00000401910.3_Missense_Mutation_p.H337L|RIMS1_ENST00000491071.2_Missense_Mutation_p.H863L|RIMS1_ENST00000523963.1_Missense_Mutation_p.H337L|RIMS1_ENST00000425662.2_Missense_Mutation_p.H256L|RIMS1_ENST00000522291.1_Missense_Mutation_p.H863L|RIMS1_ENST00000348717.5_Missense_Mutation_p.H863L|RIMS1_ENST00000521978.1_Missense_Mutation_p.H863L|RIMS1_ENST00000520567.1_Missense_Mutation_p.H863L|RIMS1_ENST00000518273.1_Missense_Mutation_p.H863L|RIMS1_ENST00000517827.1_Missense_Mutation_p.H322L|RIMS1_ENST00000517960.1_Missense_Mutation_p.H863L			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	863					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GATGAACCGCATTGGTATAAA	0.393000													4	7					0	0	0.009096	0	0
AFF3	3899	broad.mit.edu	37	2	100203709	100203709	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:100203709T>C	ENST00000317233.4	-	15	2733	c.2498A>G	c.(2497-2499)aAg>aGg	p.K833R	AFF3_ENST00000356421.2_Missense_Mutation_p.K858R|AFF3_ENST00000409579.1_Missense_Mutation_p.K858R|AFF3_ENST00000409236.1_Missense_Mutation_p.K833R	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	833					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTGGGACTTCTTGATCTCCCT	0.463000													50	110					0	0	0.139131	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33637800	33637800	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:33637800C>A	ENST00000504830.1	-	12	2105	c.1770G>T	c.(1768-1770)ttG>ttT	p.L590F	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.L590F	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	590	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGACGTTGCACAAGCGATAGC	0.468000										HNSCC(64;0.19)			20	48					4.35082e-09	5.07074e-09	0.055883	1	0
SIAE	54414	broad.mit.edu	37	11	124519604	124519604	+	Silent	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:124519604G>T	ENST00000263593.3	-	5	805	c.633C>A	c.(631-633)atC>atA	p.I211I	SIAE_ENST00000545756.1_Silent_p.I176I			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	211						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		CGATCAGCCCGATGGGATACT	0.522000													34	84					1.36615e-20	1.79931e-20	0.054565	1	0
XKR9	389668	broad.mit.edu	37	8	71619348	71619348	+	Silent	SNP	C	C	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:71619348C>G	ENST00000408926.3	+	4	987	c.453C>G	c.(451-453)ctC>ctG	p.L151L	XKR9_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Silent_p.L151L	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	151						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)			TTCTTCAACTCTACATTCTTC	0.393000													3	70					0	0	0.014758	0	0
TIMELESS	8914	broad.mit.edu	37	12	56827878	56827878	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:56827878T>A	ENST00000229201.4	-	2	231	c.77A>T	c.(76-78)cAt>cTt	p.H26L	TIMELESS_ENST00000553532.1_Missense_Mutation_p.H26L|TIMELESS_ENST00000554616.1_Missense_Mutation_p.H26L	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	26					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TGGTTCCTTATGGTAAGTGTC	0.438000													14	36					0	0	0.119110	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125284860	125284860	+	Splice_Site	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:125284860A>G	ENST00000431078.1	+	10	1838		c.e10-1			NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5						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)		TCTGTCCCACAGGGTGCCCCG	0.453000													3	21					0	0	0.009096	0	0
SEC24A	10802	broad.mit.edu	37	5	134033663	134033663	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:134033663G>A	ENST00000398844.2	+	15	2470	c.2182G>A	c.(2182-2184)Gta>Ata	p.V728I		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	728					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCAGTCCAAGTACAGAAATT	0.413000													4	136					0	0	0.009096	0	0
ITGA7	3679	broad.mit.edu	37	12	56089326	56089326	+	Silent	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:56089326C>T	ENST00000257880.7	-	15	2334	c.2115G>A	c.(2113-2115)acG>acA	p.T705T	ITGA7_ENST00000394230.2_Silent_p.T665T|ITGA7_ENST00000452168.2_Silent_p.T568T|ITGA7_ENST00000553804.1_Silent_p.T665T|ITGA7_ENST00000394229.2_Silent_p.T661T|ITGA7_ENST00000555728.1_Silent_p.T705T|ITGA7_ENST00000257879.6_Silent_p.T661T|ITGA7_ENST00000347027.6_Silent_p.T655T			Q13683	ITA7_HUMAN	integrin, alpha 7	705					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTTGGAATTCCGTGTCGCTGA	0.597000													14	85					0	0	0.119110	0	0
MRPL52	122704	broad.mit.edu	37	14	23299461	23299461	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr14:23299461C>T	ENST00000355151.5	+	3	185	c.155C>T	c.(154-156)gCg>gTg	p.A52V	MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000557221.1_Missense_Mutation_p.R2W|MRPL52_ENST00000556840.1_5'UTR|MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000397496.3_Missense_Mutation_p.A51V|MRPL52_ENST00000461594.1_3'UTR|MRPL52_ENST00000311892.6_5'UTR|MRPL52_ENST00000432849.3_Missense_Mutation_p.A51V|MRPL52_ENST00000397505.2_Missense_Mutation_p.A52V	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52	52					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome					all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TGGTCATATGCGGGTAAGCGC	0.602000													5	98					0	0	0.014758	0	0
MEGF9	1955	broad.mit.edu	37	9	123384920	123384920	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:123384920C>A	ENST00000373930.3	-	3	1028	c.917G>T	c.(916-918)cGg>cTg	p.R306L	MEGF9_ENST00000426959.1_Missense_Mutation_p.R343L	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	306	Laminin EGF-like 3.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						ACTGGCAGACCGATTATTGCA	0.423000													12	29					3.41278e-10	4.1259e-10	0.033300	1	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													3	31					0	0	0.115264	0	0
GDF9	2661	broad.mit.edu	37	5	132197721	132197721	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:132197721C>T	ENST00000378673.2	-	3	1791	c.925G>A	c.(925-927)Gat>Aat	p.D309N	GDF9_ENST00000296875.2_Missense_Mutation_p.D309N			O60383	GDF9_HUMAN	growth differentiation factor 9	309					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GATCTCCCATCCTCAGCAGCC	0.522000													14	35					0	0	0.105934	0	0
CHD7	55636	broad.mit.edu	37	8	61655163	61655163	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:61655163C>T	ENST00000423902.2	+	2	1651	c.1172C>T	c.(1171-1173)gCc>gTc	p.A391V	CHD7_ENST00000524602.1_Missense_Mutation_p.A391V|CHD7_ENST00000525508.1_Missense_Mutation_p.A391V	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	391	Pro-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)			GGAACTTATGCCTCTCCACCT	0.522000													19	49					0	0	0.055883	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963462	88963462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr7:88963462C>T	ENST00000333190.4	+	4	1775	c.1166C>T	c.(1165-1167)tCa>tTa	p.S389L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	389						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAGTTTTCATCACTGGAGCCA	0.393000										HNSCC(36;0.09)			10	44					0	0	0.080935	0	0
ZNF695	57116	broad.mit.edu	37	1	247162685	247162685	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:247162685C>A	ENST00000339986.7	-	3	371	c.224G>T	c.(223-225)tGg>tTg	p.W75L	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Missense_Mutation_p.W75L	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	75	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GTTCACGTTCCAGGGCTCTTT	0.468000													8	31					5.4927e-09	6.31077e-09	0.047766	1	0
PDE8B	8622	broad.mit.edu	37	5	76624877	76624877	+	Silent	SNP	G	G	T	rs142671242		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:76624877G>T	ENST00000264917.5	+	4	690	c.645G>T	c.(643-645)tcG>tcT	p.S215S	PDE8B_ENST00000346042.3_Silent_p.S215S|PDE8B_ENST00000333194.4_Silent_p.S215S|PDE8B_ENST00000340978.3_Silent_p.S215S|PDE8B_ENST00000342343.4_Silent_p.S195S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	215					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CAGTGGTTTCGCGAGTGTAAG	0.488000													14	12					9.05144e-12	1.11086e-11	0.105934	1	0
ATRX	546	broad.mit.edu	37	X	76875969	76875969	+	Silent	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:76875969A>G	ENST00000373344.5	-	20	5380	c.5166T>C	c.(5164-5166)caT>caC	p.H1722H	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.H1684H	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1722	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTTTAGAATATGGCCTTCAT	0.294000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						15	3					0	0	0.146539	0	0
LPA	4018	broad.mit.edu	37	6	160969605	160969605	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:160969605T>A	ENST00000447678.1	-	32	5180	c.5060A>T	c.(5059-5061)tAc>tTc	p.Y1687F	LPA_ENST00000316300.5_Missense_Mutation_p.Y1687F	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4195	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAGGTTGCAGTACTCCCACCT	0.537000													20	48					0	0	0.043863	0	0
FABP1	2168	broad.mit.edu	37	2	88427526	88427526	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:88427526G>A	ENST00000393750.3	-	1	42	c.11C>T	c.(10-12)tCc>tTc	p.S4F	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Missense_Mutation_p.S4F			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	4					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						GTACTTGCCGGAGAAACTCAT	0.537000													31	51					0	0	0.050027	0	0
IGKV1D-8	28904	broad.mit.edu	37	2	90260016	90260016	+	RNA	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:90260016G>T	ENST00000471857.1	+	0	300																											ACAGGAGACAGAGTCACCATC	0.458000													30	65					7.38237e-10	8.7937e-10	0.116897	1	0
FOLH1B	219595	broad.mit.edu	37	11	89421766	89421766	+	RNA	SNP	G	G	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:89421766G>C	ENST00000532352.1	+	0	1436							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						AGCAAATTGGGATCTGGAAAT	0.333000													24	52					0	0	0.045705	0	0
FCRL1	115350	broad.mit.edu	37	1	157773638	157773638	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:157773638G>T	ENST00000358292.3	-	3	367	c.316C>A	c.(316-318)Cac>Aac	p.H106N	FCRL1_ENST00000368176.3_Missense_Mutation_p.H106N|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.H106N	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	106						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACTCACTGTGCACATTTATC	0.522000													5	49					0.000602214	0.000629411	0.014758	1	0
FRMPD2	143162	broad.mit.edu	37	10	49393603	49393603	+	Silent	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:49393603A>G	ENST00000374201.3	-	18	2654	c.2352T>C	c.(2350-2352)cgT>cgC	p.R784R	FRMPD2_ENST00000407470.4_Silent_p.R752R|FRMPD2_ENST00000305531.3_Silent_p.R759R	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	784	PDZ 1.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TACCAAAACCACGATGTGGGT	0.507000													17	30					0	0	0.033300	0	0
MICALCL	84953	broad.mit.edu	37	11	12379876	12379876	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:12379876G>T	ENST00000256186.2	+	9	2229	c.1938G>T	c.(1936-1938)gaG>gaT	p.E646D		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	646					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TAAACGAAGAGCAAGAAGTAT	0.473000													31	94					5.45727e-16	6.96124e-16	0.134883	1	0
RANBP9	10048	broad.mit.edu	37	6	13642754	13642754	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:13642754G>A	ENST00000011619.3	-	7	1240	c.1182C>T	c.(1180-1182)gaC>gaT	p.D394D	RANBP9_ENST00000539980.1_Silent_p.D165D	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	394	LisH.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GAACGGTCTGGTCTGTAGATC	0.373000													15	38					0	0	0.146539	0	0
LOC494141	494141	broad.mit.edu	37	11	18231364	18231364	+	Silent	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:18231364C>T	ENST00000527059.1	+	1	610	c.150C>T	c.(148-150)ttC>ttT	p.F50F	RP11-113D6.10_ENST00000340135.3_Silent_p.F50F|RP11-113D6.10_ENST00000534640.1_Silent_p.F50F																							GTGCAGCCTTCAACAACGTCG	0.428000													16	36					0	0	0.146539	0	0
MYH3	4621	broad.mit.edu	37	17	10555773	10555773	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:10555773G>A	ENST00000583535.1	-	4	399	c.312C>T	c.(310-312)taC>taT	p.Y104Y	MYH3_ENST00000226209.7_Silent_p.Y104Y	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	104	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						CCTTCAGGTTGTACAGCACGG	0.557000													28	23					0	0	0.116897	0	0
APOB	338	broad.mit.edu	37	2	21255430	21255430	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:21255430A>G	ENST00000233242.1	-	10	1275	c.1148T>C	c.(1147-1149)gTt>gCt	p.V383A	APOB_ENST00000399256.4_Missense_Mutation_p.V383A	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	383	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCACACTGAACCAAGGCTTG	0.502000													11	21					0	0	0.080935	0	0
SH3BP1	23616	broad.mit.edu	37	22	38061758	38061758	+	Silent	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr22:38061758G>T	ENST00000599616.1	+	16	1698	c.1698G>T	c.(1696-1698)acG>acT	p.T566T	PDXP_ENST00000403251.1_Silent_p.T40T|PDXP_ENST00000215904.6_Silent_p.T257T			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	0					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CTGTGCTCACGCTCACAGGAG	0.622000													24	76					8.24728e-16	1.0438e-15	0.099896	1	0
FEZ1	9638	broad.mit.edu	37	11	125359582	125359582	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:125359582T>C	ENST00000278919.3	-	2	326	c.92A>G	c.(91-93)tAt>tGt	p.Y31C	FEZ1_ENST00000366139.3_Missense_Mutation_p.Y31C|FEZ1_ENST00000524435.1_Missense_Mutation_p.Y31C	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	31					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		AGATGAACCATAGAAACACTG	0.532000													23	71					0	0	0.062417	0	0
TCEB3	6924	broad.mit.edu	37	1	24077469	24077469	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:24077469G>A	ENST00000418390.2	+	4	723	c.452G>A	c.(451-453)aGc>aAc	p.S151N		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	151					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CGATCCTATAGCCCTGACCAC	0.552000													13	27					0	0	0.119110	0	0
ITGA2B	3674	broad.mit.edu	37	17	42458334	42458334	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:42458334G>T	ENST00000262407.5	-	13	1337	c.1306C>A	c.(1306-1308)Cag>Aag	p.Q436K	ITGA2B_ENST00000377068.3_Missense_Mutation_p.Q121K|ITGA2B_ENST00000353281.4_Missense_Mutation_p.Q436K	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	436					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TCCAGGACCTGGGAGGGACGT	0.642000													30	66					3.00307e-07	3.33217e-07	0.134883	1	0
MEGF9	1955	broad.mit.edu	37	9	123384926	123384926	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:123384926T>G	ENST00000373930.3	-	3	1022	c.911A>C	c.(910-912)aAt>aCt	p.N304T	MEGF9_ENST00000426959.1_Missense_Mutation_p.N341T	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	304	Laminin EGF-like 3.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						AGACCGATTATTGCATTGGCA	0.423000													12	28					0	0	0.038395	0	0
NAV1	89796	broad.mit.edu	37	1	201618224	201618224	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:201618224A>G	ENST00000367296.4	+	1	848	c.428A>G	c.(427-429)gAg>gGg	p.E143G	NAV1_ENST00000367302.1_Missense_Mutation_p.E156G|NAV1_ENST00000295624.6_Missense_Mutation_p.E143G|NAV1_ENST00000367300.3_Missense_Mutation_p.E143G|NAV1_ENST00000367297.4_Missense_Mutation_p.E143G	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	143					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCCAAGTCGGAGCACTCGCTC	0.672000													5	10					0	0	0.021553	0	0
TERF1	7013	broad.mit.edu	37	8	73942569	73942569	+	Splice_Site	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:73942569A>G	ENST00000276603.5	+	7	910		c.e7-1		TERF1_ENST00000276602.6_Intron	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1						age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			CTTCTTTTAAAGTGTTAGTGA	0.299000													4	18					0	0	0.009096	0	0
HSPB3	8988	broad.mit.edu	37	5	53751689	53751689	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:53751689G>A	ENST00000302005.1	+	1	245	c.70G>A	c.(70-72)Ggt>Agt	p.G24S		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	24					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TGAAGCTCGAGGTCTAGAAGA	0.507000													8	91					0	0	0.058154	0	0
OR8J1	219477	broad.mit.edu	37	11	56128169	56128169	+	Silent	SNP	C	C	T	rs141638344		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:56128169C>T	ENST00000303039.3	+	1	479	c.447C>T	c.(445-447)taC>taT	p.Y149Y		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CCCTCACATACCTCTATGGCT	0.433000													28	45					0	0	0.108266	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774536	100774536	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:100774536G>T	ENST00000323346.5	+	2	472	c.159G>T	c.(157-159)agG>agT	p.R53S	SLC17A8_ENST00000392989.3_Missense_Mutation_p.R53S	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	53					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						AAGAAGGAAGGCCGGTGCAGA	0.502000													17	128					2.94398e-08	3.31198e-08	0.043863	1	0
FFAR3	2865	broad.mit.edu	37	19	35849960	35849960	+	Silent	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:35849960C>T	ENST00000327809.4	+	2	369	c.168C>T	c.(166-168)aaC>aaT	p.N56N	FFAR3_ENST00000594310.1_Silent_p.N56N	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	56						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TCCTGCTCAACCTGACCGCCT	0.667000													9	81					0	0	0.132662	0	0
CYP4F2	8529	broad.mit.edu	37	19	16003194	16003194	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:16003194C>T	ENST00000221700.5	-	5	545	c.450G>A	c.(448-450)atG>atA	p.M150I	CYP4F2_ENST00000011989.7_Start_Codon_SNP_p.M1I|CYP4F2_ENST00000592328.1_Missense_Mutation_p.M150I	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	150					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						CAGGCGTCAGCATCCGACGGT	0.562000													35	46					0	0	0.064281	0	0
NOV	4856	broad.mit.edu	37	8	120435311	120435311	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr8:120435311C>A	ENST00000259526.3	+	5	1240	c.1013C>A	c.(1012-1014)cCt>cAt	p.P338H	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	338	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCAACTGTCCTAAGAACAAT	0.507000													52	117					2.48254e-18	3.21737e-18	0.139131	1	0
PLEKHJ1	55111	broad.mit.edu	37	19	2233901	2233901	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr19:2233901G>C	ENST00000589097.1	-	7	1501	c.388C>G	c.(388-390)Ccc>Gcc	p.P130A	PLEKHJ1_ENST00000586608.1_Missense_Mutation_p.P131A|PLEKHJ1_ENST00000591099.1_3'UTR|PLEKHJ1_ENST00000588545.1_Missense_Mutation_p.P111A|PLEKHJ1_ENST00000587962.1_Silent_p.T160T|PLEKHJ1_ENST00000589791.1_5'UTR|PLEKHJ1_ENST00000587394.1_Intron|PLEKHJ1_ENST00000326631.2_Missense_Mutation_p.P130A			Q9NW61	PKHJ1_HUMAN	pleckstrin homology domain containing, family J member 1	130							protein binding			endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTTCCAGGGGGTCCTGTGGG	0.692000													8	29					0	0	0.038147	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6082004	6082004	+	Silent	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr4:6082004C>T	ENST00000409021.3	-	7	1586	c.1137G>A	c.(1135-1137)cgG>cgA	p.R379R	JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Silent_p.R214R|JAKMIP1_ENST00000282924.5_Silent_p.R379R|JAKMIP1_ENST00000410077.2_Silent_p.R214R|JAKMIP1_ENST00000409831.1_Silent_p.R379R	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	379	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGAGGTATGCCGCTTCAGAG	0.572000													3	42					0	0	0.115264	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24873384	24873384	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:24873384G>A	ENST00000396432.2	-	26	6320	c.5834C>T	c.(5833-5835)tCt>tTt	p.S1945F		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1944					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGGGGTTTCAGACAGTTTATG	0.448000													41	99					0	0	0.111260	0	0
SYNE1	23345	broad.mit.edu	37	6	152554995	152554995	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr6:152554995C>A	ENST00000367255.5	-	112	21234	c.20633G>T	c.(20632-20634)cGc>cTc	p.R6878L	SYNE1_ENST00000341594.5_Missense_Mutation_p.R6490L|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6807L|SYNE1_ENST00000265368.4_Missense_Mutation_p.R6878L|SYNE1_ENST00000423061.1_Missense_Mutation_p.R6807L|SYNE1_ENST00000356820.4_Missense_Mutation_p.R1402L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6878					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)		CAGCTCAGAGCGCAGCGTGGC	0.498000										HNSCC(10;0.0054)			17	34					9.16793e-09	1.04592e-08	0.033300	1	0
MAN1B1	11253	broad.mit.edu	37	9	139981560	139981560	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:139981560A>G	ENST00000371589.4	+	1	182	c.109A>G	c.(109-111)Atg>Gtg	p.M37V		NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	37					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CACTGTAGTCATGTACCCACC	0.662000													7	9					0	0	0.047766	0	0
KIF2B	84643	broad.mit.edu	37	17	51901024	51901024	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:51901024A>T	ENST00000268919.4	+	1	786	c.630A>T	c.(628-630)caA>caT	p.Q210H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	210	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCCCCCGCAAGAACATCGCA	0.537000													12	23					0	0	0.105934	0	0
KRT77	374454	broad.mit.edu	37	12	53086203	53086203	+	Splice_Site	SNP	A	A	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr12:53086203A>G	ENST00000341809.3	-	7	1456		c.e7+1		KRT77_ENST00000537195.1_Splice_Site	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77							keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGCCAGACCCACCTGCTCTCC	0.592000													9	30					0	0	0.069234	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84605871	84605871	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:84605871G>A	ENST00000344803.2	+	4	533	c.486G>A	c.(484-486)tcG>tcA	p.S162S		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TGGCTTCTTCGGCTTCTGCGA	0.562000													6	83					0	0	0.021553	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24955940	24955940	+	Splice_Site	SNP	T	T	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:24955940T>A	ENST00000396432.2	-	4	730		c.e4-2			NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21						signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTCTTCATCCTACAAATGAAA	0.289000													3	13					0	0	0.115264	0	0
FAM129A	116496	broad.mit.edu	37	1	184764621	184764621	+	Silent	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:184764621G>A	ENST00000367511.3	-	14	2470	c.2277C>T	c.(2275-2277)caC>caT	p.H759H	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	759	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AGTTGTCGGGGTGGATGGCAG	0.562000													70	159					0	0	0.139131	0	0
NPAP1	23742	broad.mit.edu	37	15	24921169	24921169	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr15:24921169G>T	ENST00000329468.2	+	1	629	c.155G>T	c.(154-156)cGc>cTc	p.R52L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GGCCTGTTCCGCCGGAACGCC	0.756000													6	21					0.00198382	0.002047	0.029380	1	0
BRE	9577	broad.mit.edu	37	2	28117398	28117398	+	Splice_Site	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:28117398A>T	ENST00000344773.2	+	2	114		c.e2-1		BRE_ENST00000603461.1_Intron|BRE_ENST00000379632.2_Splice_Site|BRE_ENST00000361704.2_Splice_Site|BRE_ENST00000342045.2_Splice_Site|BRE_ENST00000379624.1_Splice_Site	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)						apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TTCTGCTTTCAGTGGTGATTT	0.438000													44	107					0	0	0.131918	0	0
ZFP37	7539	broad.mit.edu	37	9	115805240	115805240	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:115805240G>T	ENST00000374227.3	-	4	1685	c.1658C>A	c.(1657-1659)gCc>gAc	p.A553D	ZFP37_ENST00000553380.1_Missense_Mutation_p.A568D|ZFP37_ENST00000555206.1_Missense_Mutation_p.A554D			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	553						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTGGCTAAAGGCTTTCCCACA	0.383000													22	92					1.50039e-11	1.82754e-11	0.062417	1	0
LAMB3	3914	broad.mit.edu	37	1	209804074	209804074	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:209804074C>T	ENST00000391911.1	-	8	1218	c.829G>A	c.(829-831)Gat>Aat	p.D277N	LAMB3_ENST00000356082.4_Missense_Mutation_p.D277N|LAMB3_ENST00000367030.3_Missense_Mutation_p.D277N	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	277	Laminin EGF-like 1.				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)		ACACAGACATCGTGGACCTGG	0.627000													4	36					0	0	0.014758	0	0
USP54	159195	broad.mit.edu	37	10	75335341	75335341	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:75335341A>T	ENST00000339859.4	-	2	176	c.76T>A	c.(76-78)Tcc>Acc	p.S26T	USP54_ENST00000408019.1_Missense_Mutation_p.S26T|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.S26T|USP54_ENST00000428547.1_Missense_Mutation_p.S26T			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	26					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGGGCTATGGAGGTTGAGCTT	0.458000													22	37					0	0	0.069288	0	0
GRIN3A	116443	broad.mit.edu	37	9	104335733	104335733	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:104335733C>T	ENST00000361820.3	-	9	3671	c.3071G>A	c.(3070-3072)cGa>cAa	p.R1024Q		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1024					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTATTTCCGTCGGTTGTCATG	0.483000													66	99					0	0	0.139131	0	0
CDH9	1007	broad.mit.edu	37	5	26885961	26885961	+	Silent	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr5:26885961T>C	ENST00000231021.4	-	11	1816	c.1644A>G	c.(1642-1644)ggA>ggG	p.G548G		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	548	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GAGTCATGATTCCTGCTGTAT	0.328000													3	82					0	0	0.014758	0	0
USH2A	7399	broad.mit.edu	37	1	215847915	215847915	+	Silent	SNP	G	G	A	rs111033408		TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:215847915G>A	ENST00000366943.2	-	63	13724	c.13338C>T	c.(13336-13338)aaC>aaT	p.N4446N	USH2A_ENST00000307340.3_Silent_p.N4446N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4446	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGAGTCCATGTTCTCTGGCA	0.463000										HNSCC(13;0.011)			41	31					0	0	0.092188	0	0
FRG1BP	284802	broad.mit.edu	37	20	29632681	29632681	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr20:29632681G>T	ENST00000278882.3	+	8	876	c.496G>T	c.(496-498)Gct>Tct	p.A166S	FRG1B_ENST00000358464.4_Missense_Mutation_p.A166S																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCTTAAAAAGGCTCAGAAAGA	0.308000													16	657					8.34094e-07	9.19205e-07	0.049695	1	0
NOTCH1	4851	broad.mit.edu	37	9	139418289	139418289	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr9:139418289C>A	ENST00000277541.6	-	3	358	c.283G>T	c.(283-285)Ggg>Tgg	p.G95W	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	95	EGF-like 2.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGAGGGGCCCAGAGAAGCCC	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			10	20					3.86212e-05	4.06275e-05	0.069234	1	0
KCNJ5	3762	broad.mit.edu	37	11	128781856	128781856	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:128781856G>A	ENST00000529694.1	+	2	1064	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	KCNJ5_ENST00000533599.1_Missense_Mutation_p.V230M|KCNJ5_ENST00000338350.4_Missense_Mutation_p.V230M	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	230					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CTCCCACATCGTGGAGGCCTC	0.592000													16	65					0	0	0.033300	0	0
POGK	57645	broad.mit.edu	37	1	166818449	166818449	+	Silent	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr1:166818449T>C	ENST00000367875.1	+	5	993	c.633T>C	c.(631-633)taT>taC	p.Y211Y	POGK_ENST00000536514.1_Silent_p.Y126Y|POGK_ENST00000537173.1_Silent_p.Y93Y|POGK_ENST00000367876.4_Silent_p.Y211Y			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	211					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TAGTGGAATATGCTGAGAGTA	0.527000													21	28					0	0	0.062417	0	0
TRGC2	6967	broad.mit.edu	37	7	38288988	38288988	+	RNA	SNP	T	T	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr7:38288988T>A	ENST00000436911.2	-	0	185																											TTAGTCTTCATGGTGTTCCCC	0.393000													55	159					0	0	0.139131	0	0
TNIK	23043	broad.mit.edu	37	3	170819325	170819325	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr3:170819325T>C	ENST00000436636.2	-	22	2848	c.2504A>G	c.(2503-2505)gAg>gGg	p.E835G	TNIK_ENST00000538048.1_Missense_Mutation_p.E787G|TNIK_ENST00000460047.1_Missense_Mutation_p.E772G|TNIK_ENST00000488470.1_Missense_Mutation_p.E780G|TNIK_ENST00000470834.1_Missense_Mutation_p.E798G|TNIK_ENST00000369326.5_Missense_Mutation_p.E813G|TNIK_ENST00000357327.5_Missense_Mutation_p.E806G|TNIK_ENST00000341852.6_Missense_Mutation_p.E751G|TNIK_ENST00000284483.8_Missense_Mutation_p.E827G|TNIK_ENST00000475336.1_Missense_Mutation_p.E743G	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	835	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ACTTTCTGACTCCTCACTGGA	0.493000													128	144					0	0	0.139131	0	0
ALPK3	57538	broad.mit.edu	37	15	85405961	85405961	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr15:85405961G>A	ENST00000258888.5	+	10	4998	c.4831G>A	c.(4831-4833)Gag>Aag	p.E1611K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1611	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACTGGTAAGCGAGGAGCTCCG	0.597000													18	20					0	0	0.038395	0	0
SAMD7	344658	broad.mit.edu	37	3	169642876	169642876	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr3:169642876A>T	ENST00000428432.2	+	5	631	c.242A>T	c.(241-243)aAg>aTg	p.K81M	SAMD7_ENST00000335556.3_Missense_Mutation_p.K81M	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	81										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GAATCCATAAAGGCAGTGGCC	0.343000													5	66					0	0	0.021553	0	0
KBTBD3	143879	broad.mit.edu	37	11	105923992	105923992	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:105923992C>A	ENST00000526793.1	-	3	1583	c.1424G>T	c.(1423-1425)tGc>tTc	p.C475F	KBTBD3_ENST00000534815.1_Missense_Mutation_p.C396F|KBTBD3_ENST00000531837.1_Missense_Mutation_p.C475F	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	471										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TTTAAAAAAGCAATCAAGTGA	0.358000													12	28					5.50884e-06	5.94954e-06	0.093190	1	0
HYAL1	3373	broad.mit.edu	37	3	50338477	50338477	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr3:50338477G>A	ENST00000266031.4	-	2	1547	c.932C>T	c.(931-933)gCg>gTg	p.A311V	HYAL1_ENST00000457214.2_Missense_Mutation_p.A129V|HYAL1_ENST00000320295.8_Missense_Mutation_p.A311V|HYAL1_ENST00000395144.2_Missense_Mutation_p.A311V|HYAL1_ENST00000395143.2_Intron|HYAL1_ENST00000447605.2_Missense_Mutation_p.A52V			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	311						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	CCCCTGGGCCGCACTCTCCCC	0.627000													3	26					0	0	0.115264	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008503	88008503	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:88008503G>C	ENST00000276127.4	+	3	347	c.88G>C	c.(88-90)Gac>Cac	p.D30H	CPXCR1_ENST00000373111.1_Missense_Mutation_p.D30H	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	30						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CTGTAGTACAGACATAGAGTC	0.428000													14	1					0	0	0.119110	0	0
MAP3K19	80122	broad.mit.edu	37	2	135756434	135756434	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr2:135756434T>A	ENST00000375845.3	-	5	478	c.448A>T	c.(448-450)Agg>Tgg	p.R150W	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Missense_Mutation_p.R150W|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R167W|MAP3K19_ENST00000392917.3_Missense_Mutation_p.R150W|MAP3K19_ENST00000392918.3_Missense_Mutation_p.R150W|MAP3K19_ENST00000358371.4_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CAGAGCTCCCTGGAACTTTCC	0.428000													22	37					0	0	0.055883	0	0
CLTCL1	8218	broad.mit.edu	37	22	19195770	19195770	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr22:19195770C>T	ENST00000263200.10	-	22	3566	c.3494G>A	c.(3493-3495)cGt>cAt	p.R1165H	CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1165H|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1165H	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1165	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATAGGACTCACGGCCCTTTTT	0.398000			T	?	ALCL								21	45					0	0	0.076483	0	0
ABCA9	10350	broad.mit.edu	37	17	67031933	67031933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:67031933C>T	ENST00000340001.4	-	7	1021	c.810G>A	c.(808-810)tgG>tgA	p.W270*	ABCA9_ENST00000370732.2_Nonsense_Mutation_p.W270*|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.W270*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	270					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ACATCAAACCCCAGGAAAGCC	0.403000													10	14					0	0	0.058154	0	0
FAT1	2195	broad.mit.edu	37	4	187629538	187629538	+	Frame_Shift_Del	DEL	C	C	-	rs3733413	by1000genomes	TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr4:187629538delC	ENST00000441802.2	-	2	1653	c.1444delG	c.(1444-1446)tcfs	p.V482fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	482	Cadherin 4.			V -> I (in Ref. 1; CAA60685).	actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGGCTCATGACAGTAGTACCA	0.468										HNSCC(5;0.00058)			38	48	---	---	---	---					
RP11-672F9.1	0	broad.mit.edu	37	10	38621998	38621998	+	RNA	DEL	C	C	-			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:38621998delC	ENST00000450980.1	+	0	340																											AAAAGTTGCTCCAACTGACTT	0.348													13	39	---	---	---	---					
SLC18A3	6572	broad.mit.edu	37	10	50819677	50819677	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr10:50819677delG	ENST00000374115.3	+	1	1331	c.891delG	c.(889-891)gcfs	p.A297fs	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	297					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGGCCGGCGCGCTCACCACCT	0.642													23	58	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651586	1651615	+	In_Frame_Del	DEL	CTGCTGCCAGTCCAGCTGCTGTAAGCCTTA	CTGCTGCCAGTCCAGCTGCTGTAAGCCTTA	-	rs76143925	by1000genomes	TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:1651586_1651615delCTGCTGCCAGTCCAGCTGCTGTAAGCCTTA	ENST00000399676.2	+	1	554_583	c.516_545delCTGCTGCCAGTCCAGCTGCTGTAAGCCTTA	c.(514-546)tcc>tc	p.SCCQSSCCKPY172del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	172	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.Y182_P191delYCCQSSCCKP(1)|p.Y192_P201delYCCQSSCCKP(1)		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)		GTGGGTCATCCTGCTGCCAGTCCAGCTGCTGTAAGCCTTACTGCTGCCAG	0.613													39	108	---	---	---	---					
STK33	65975	broad.mit.edu	37	11	8474394	8474394	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr11:8474394delG	ENST00000447869.1	-	7	1764	c.846delC	c.(844-846)gcfs	p.A282fs	STK33_ENST00000396673.1_Frame_Shift_Del_p.A282fs|STK33_ENST00000358872.3_Frame_Shift_Del_p.A95fs|STK33_ENST00000396672.1_Frame_Shift_Del_p.A282fs|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000534493.1_Frame_Shift_Del_p.A241fs|STK33_ENST00000315204.1_Frame_Shift_Del_p.A282fs			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	282	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TCCCACATGTGGCCTGCAGCA	0.453													49	98	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20138377	20138377	+	RNA	DEL	A	A	-			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr14:20138377delA	ENST00000548261.1	+	0	391																											CAaaagaaagaaagaaagaaa	0.383													5	4	---	---	---	---					
KIAA0430	9665	broad.mit.edu	37	16	15729832	15729832	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr16:15729832delC	ENST00000396368.3	-	3	718	c.512delG	c.(511-513)gcfs	p.G171fs	KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000602337.1_Frame_Shift_Del_p.G171fs|KIAA0430_ENST00000548025.1_Frame_Shift_Del_p.G171fs|KIAA0430_ENST00000551742.1_Frame_Shift_Del_p.G171fs|KIAA0430_ENST00000540441.2_Frame_Shift_Del_p.G171fs	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	170						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ACTTGCAATGCCTGCCAAATT	0.498													60	110	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7576896	7576897	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:7576896_7576897insG	ENST00000420246.2	-	9	1081_1082	c.949_950insC	c.(949-951)gccfs	p.A317fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Frame_Shift_Ins_p.A317fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.A317fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.A317fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.A317fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	317	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (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.Q317*(29)|p.0?(8)|p.Q317K(3)|p.Q317R(2)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317P(1)|p.Q317fs*28(1)|p.Q317fs*45(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)		CTTCTTTGGCTGGGGAGAGGAG	0.470		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)			20	31	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgt>cg	p.RPLCCQTTCHPSCGMSSCCR85del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10).			keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													28	27	---	---	---	---					
ASXL1	171023	broad.mit.edu	37	20	31022483	31022483	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chr20:31022483delT	ENST00000375687.4	+	13	2392	c.1968delT	c.(1966-1968)gafs	p.D656fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.D651fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	656	Gly-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.T639_G659>PPWD(1)|p.A640_S664>PCSGG(1)|p.T655fs*8(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGGCCACCGATGAGGGAGGTG	0.701			"""F, N, Mis"""		"""MDS, CMML"""								10	9	---	---	---	---					
MAGEC1	9947	broad.mit.edu	37	X	140994291	140994291	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-5439-01A-01D-1683-08	TCGA-CV-5439-11B-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42a06486-b084-4497-8fe0-a8cff194e020	b56eef37-cf39-407c-9789-5425c2a1648d	g.chrX:140994291delT	ENST00000285879.4	+	4	1387	c.1101delT	c.(1099-1101)ggfs	p.G367fs	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	367							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)					CTTTTGAGGGTTTTCCCCAGT	0.478										HNSCC(15;0.026)			104	45	---	---	---	---