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
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ggggagggggtgggggtggag	0.627000													5	8					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70908255	70908255	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:70908255T>G	ENST00000393567.2	-	64	11051	c.10901A>C	c.(10900-10902)gAg>gCg	p.E3634A		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3634										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTCTGTGAACTCAGAGATACT	0.507000													22	94					0	0	1	0	0
RBM14	10432	broad.mit.edu	37	11	66384329	66384329	+	Silent	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:66384329G>A	ENST00000310137.4	+	1	277	c.138G>A	c.(136-138)gcG>gcA	p.A46A	RBM14_ENST00000409738.4_Silent_p.A46A|RBM4_ENST00000514361.3_Silent_p.A46A|RBM14_ENST00000393979.3_Silent_p.A46A|RBM14_ENST00000443702.1_Silent_p.A46A|RBM4_ENST00000503028.2_5'UTR|RBM14-RBM4_ENST00000500635.2_Silent_p.A46A|RBM14-RBM4_ENST00000412278.2_Silent_p.A46A|RBM14_ENST00000409372.1_Silent_p.A46A	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	46	RRM 1.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGAGAACGCGGGCGCGCTGC	0.677000													43	93					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40318406	40318406	+	Silent	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:40318406C>T	ENST00000264661.3	-	10	2081	c.1749G>A	c.(1747-1749)ctG>ctA	p.L583L	KCNH4_ENST00000607371.1_Silent_p.L583L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	583					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CACGGCGCAACAGGTACTCGC	0.632000													9	27					0	0	1	0	0
SSB	6741	broad.mit.edu	37	2	170667453	170667453	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:170667453A>G	ENST00000409333.1	+	10	1143	c.896A>G	c.(895-897)aAa>aGa	p.K299R	SSB_ENST00000260956.4_Missense_Mutation_p.K299R|METTL5_ENST00000409837.1_Intron			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	299					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTAAGGAACAAAGAAGTGACT	0.363000													12	51					0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69392326	69392326	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:69392326C>G	ENST00000193403.6	-	2	552	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	ACTN1_ENST00000538545.2_Missense_Mutation_p.E57Q|ACTN1_ENST00000376839.3_5'UTR|ACTN1_ENST00000438964.2_Missense_Mutation_p.E57Q|ACTN1_ENST00000394419.4_Missense_Mutation_p.E57Q	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	57	Actin-binding.|CH 1.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGGAAGTCCTCTTCGATGTTC	0.587000													19	52					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000													3	58					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:53856702G>A	ENST00000458035.1	+	4	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000													3	23					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119929246	119929246	+	Splice_Site	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:119929246G>A	ENST00000361035.4	+	6	885	c.600_splice	c.e6-1	p.G201_splice	HAO2_ENST00000325945.3_Splice_Site_p.G188_splice	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	188	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TTCCTATAGGGAAATGCAATA	0.418000													9	59					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:182812436T>G	ENST00000367549.3	+	3	229	c.119T>G	c.(118-120)gTg>gGg	p.V40G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	40	DRBM 1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.V40G(8)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGGTTCAGGTGGAAGGTTAT	0.333000													6	38					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73505357	73505357	+	Silent	SNP	A	A	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:73505357A>G	ENST00000326291.6	+	14	2123	c.1785A>G	c.(1783-1785)ttA>ttG	p.L595L		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	595						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CGCTGATTTTAAAAGATCTGG	0.318000													5	26					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76889172	76889172	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:76889172A>T	ENST00000373344.5	-	18	5052	c.4838T>A	c.(4837-4839)tTg>tAg	p.L1613*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.L1575*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1613	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)	TTTGTCACACAAAAGAACTGT	0.328000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						14	32					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123200103	123200103	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:123200103G>T	ENST00000371160.1	+	22	2465	c.2175G>T	c.(2173-2175)atG>atT	p.M725I	STAG2_ENST00000218089.9_Missense_Mutation_p.M725I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.M725I|STAG2_ENST00000371145.3_Missense_Mutation_p.M725I|STAG2_ENST00000354548.5_Missense_Mutation_p.M656I|STAG2_ENST00000371144.3_Missense_Mutation_p.M725I			Q8N3U4	STAG2_HUMAN	stromal antigen 2	725					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATGGAGACATGCCTGAGCAGG	0.294000													21	103					2.70639e-06	2.84308e-06	1	1	0
TMEM109	79073	broad.mit.edu	37	11	60687374	60687374	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:60687374G>T	ENST00000227525.3	+	2	612	c.209G>T	c.(208-210)gGg>gTg	p.G70V	TMEM109_ENST00000536171.1_Missense_Mutation_p.G70V|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	70						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						GCCTGGATTGGGCCAGAGACC	0.507000													13	103					4.36969e-10	4.63722e-10	1	1	0
LPL	4023	broad.mit.edu	37	8	19811731	19811731	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:19811731A>C	ENST00000311322.8	+	5	1112	c.642A>C	c.(640-642)agA>agC	p.R214S		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	214					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CATTCACCAGAGGGTCCCCTG	0.488000													42	93					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78593244	78593244	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:78593244G>C	ENST00000397909.2	+	37	6821	c.6648G>C	c.(6646-6648)tgG>tgC	p.W2216C	NAV3_ENST00000228327.6_Missense_Mutation_p.W2194C|NAV3_ENST00000266692.7_Missense_Mutation_p.W2017C|NAV3_ENST00000541270.1_Missense_Mutation_p.W46C|NAV3_ENST00000536525.2_Missense_Mutation_p.W2194C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2216						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTATAGATTGGATTCCGAAGA	0.358000										HNSCC(70;0.22)			14	82					0	0	1	0	0
WASH3P	0	broad.mit.edu	37	15	102515335	102515335	+	RNA	SNP	C	C	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr15:102515335C>G	ENST00000557932.1	+	0	1181																		p.L386V(3)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GGAGCGAAAGCTGGAGAAGAA	0.652000													8	46					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142542416	142542416	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:142542416G>A	ENST00000295992.3	-	7	1213	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	303	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTCCCCGTCCGTCTACACTTT	0.383000													15	50					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148072840	148072840	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:148072840G>A	ENST00000370460.2	+	21	4393	c.3914G>A	c.(3913-3915)cGc>cAc	p.R1305H	AFF2_ENST00000286437.5_Missense_Mutation_p.R946H|AFF2_ENST00000342251.3_Missense_Mutation_p.R1272H|AFF2_ENST00000370457.5_Missense_Mutation_p.R1270H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1305					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.R1305L(2)|p.R946L(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTGGCTGCGCATCGATGCC	0.547000													23	125					0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57270920	57270920	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:57270920C>T	ENST00000339475.5	-	4	535	c.259G>A	c.(259-261)Gag>Aag	p.E87K	OTX2_ENST00000554788.1_Intron|OTX2_ENST00000554559.1_Intron|OTX2_ENST00000408990.3_Missense_Mutation_p.E79K|OTX2_ENST00000555006.1_Missense_Mutation_p.E79K	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	79					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ACCCTCGACTCGGGCAAGTTG	0.572000													12	61					0	0	1	0	0
TMEM109	79073	broad.mit.edu	37	11	60687373	60687373	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:60687373G>T	ENST00000227525.3	+	2	611	c.208G>T	c.(208-210)Ggg>Tgg	p.G70W	TMEM109_ENST00000536171.1_Missense_Mutation_p.G70W|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	70						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						TGCCTGGATTGGGCCAGAGAC	0.502000													13	104					4.36969e-10	4.63722e-10	1	1	0
EMR3	84658	broad.mit.edu	37	19	14749062	14749062	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:14749062T>C	ENST00000253673.5	-	11	1439	c.1339A>G	c.(1339-1341)Act>Gct	p.T447A	EMR3_ENST00000599900.1_Missense_Mutation_p.T232A|EMR3_ENST00000443157.2_Missense_Mutation_p.T321A|EMR3_ENST00000344373.4_Missense_Mutation_p.T395A	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	447					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTCCGTGCAGTGAGGAAGAGG	0.572000													22	94					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20939211	20939211	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr22:20939211G>A	ENST00000263205.7	+	15	1942	c.1873G>A	c.(1873-1875)Gtc>Atc	p.V625I	MED15_ENST00000542773.1_3'UTR|MED15_ENST00000425759.2_Missense_Mutation_p.V474I|MED15_ENST00000541476.1_Missense_Mutation_p.V559I|MED15_ENST00000382974.2_Missense_Mutation_p.V514I|MED15_ENST00000406969.1_Missense_Mutation_p.V559I|MED15_ENST00000292733.7_Missense_Mutation_p.V585I	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	625					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCTGGATGCCGTCCTGGCCAA	0.632000													56	138					0	0	1	0	0
OSTF1	26578	broad.mit.edu	37	9	77752522	77752522	+	Silent	SNP	T	T	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr9:77752522T>G	ENST00000346234.6	+	8	627	c.477T>G	c.(475-477)ctT>ctG	p.L159L		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	159			L -> F (in dbSNP:rs17850197).		ossification|signal transduction	cytoplasm	identical protein binding			endometrium(1)|skin(1)	2						TCCAGTTGCTTCTGGCAAAAG	0.388000													11	27					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50417431	50417431	+	Silent	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:50417431C>T	ENST00000435965.1	-	9	1034	c.861G>A	c.(859-861)tcG>tcA	p.S287S	CACNA2D2_ENST00000479441.1_Silent_p.S287S|CACNA2D2_ENST00000429770.1_Silent_p.S287S|CACNA2D2_ENST00000424201.2_Silent_p.S287S|CACNA2D2_ENST00000423994.2_Silent_p.S287S|CACNA2D2_ENST00000395083.1_Silent_p.S287S|CACNA2D2_ENST00000360963.3_Silent_p.S218S|CACNA2D2_ENST00000266039.3_Silent_p.S287S			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	287					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CTTTGGGTGACGAGGCCCCCT	0.567000													18	46					0	0	1	0	0
DCAF5	8816	broad.mit.edu	37	14	69584991	69584991	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:69584991C>T	ENST00000341516.5	-	4	547	c.400G>A	c.(400-402)Gag>Aag	p.E134K	DCAF5_ENST00000554215.1_Missense_Mutation_p.E52K|DCAF5_ENST00000389997.6_Missense_Mutation_p.E134K|DCAF5_ENST00000556847.1_Missense_Mutation_p.E52K|DCAF5_ENST00000557386.1_Splice_Site_p.E133_splice	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	134						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TCCAATGTCTCACTGCTGGGA	0.488000													14	30					0	0	1	0	0
NDFIP2	54602	broad.mit.edu	37	13	80107548	80107548	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:80107548A>T	ENST00000218652.7	+	3	630	c.578A>T	c.(577-579)aAa>aTa	p.K193I		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	193					negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		GAGAAGGCTAAAGCTGCTGCA	0.388000													5	43					0	0	1	0	0
XIAP	331	broad.mit.edu	37	X	123020096	123020096	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:123020096G>C	ENST00000371199.3	+	2	883	c.584G>C	c.(583-585)gGt>gCt	p.G195A	XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Missense_Mutation_p.G195A|XIAP_ENST00000355640.3_Missense_Mutation_p.G195A	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	195					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ACAGGTATTGGTGACCAAGTG	0.458000									X-linked Lymphoproliferative syndrome				13	61					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38645348	38645348	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:38645348G>A	ENST00000413689.1	-	12	1938	c.1745C>T	c.(1744-1746)gCt>gTt	p.A582V	SCN5A_ENST00000333535.4_Missense_Mutation_p.A582V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A582V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A582V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A582V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A582V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A582V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A582V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A582V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A582V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	582					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGGCCAGGAGCCGAGGTTCC	0.662000													28	204					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38172973	38172973	+	Silent	SNP	T	T	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:38172973T>C	ENST00000317025.8	-	11	2593	c.2076A>G	c.(2074-2076)agA>agG	p.R692R	WHSC1L1_ENST00000527502.1_Silent_p.R692R|WHSC1L1_ENST00000433384.2_Silent_p.R692R	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	692					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CAGTGCCTCTTCTCGACAAAC	0.428000			T	NUP98	AML								23	148					0	0	1	0	0
NABP2	79035	broad.mit.edu	37	12	56622875	56622875	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:56622875T>C	ENST00000380198.2	+	6	1012	c.514T>C	c.(514-516)Tcc>Ccc	p.S172P	NABP2_ENST00000341463.5_Missense_Mutation_p.S172P|NABP2_ENST00000267023.4_Missense_Mutation_p.S172P					nucleic acid binding protein 2																		TCATACTCCCTCCCACCCACC	0.597000													6	19					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								13	56					0	0	1	0	0
DENND1B	163486	broad.mit.edu	37	1	197611926	197611926	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:197611926G>A	ENST00000235453.4	-	10	774	c.497C>T	c.(496-498)gCc>gTc	p.A166V	DENND1B_ENST00000367396.3_Missense_Mutation_p.A196V|DENND1B_ENST00000400967.2_Missense_Mutation_p.A166V			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	196	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						CACATCCACGGCAACAAAATA	0.378000													6	23					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304718	10304718	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:10304718T>A	ENST00000403437.2	-	24	3076	c.2982A>T	c.(2980-2982)aaA>aaT	p.K994N	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	994					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTTGGACAGTTTTGCAATGG	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				54	139					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350474	100350474	+	RNA	SNP	T	T	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:100350474T>C	ENST00000542585.1	+	0	2894				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.S916P(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCTCCACGGAAAA	0.502000													6	203					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5687543	5687543	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:5687543G>T	ENST00000356134.5	-	23	2449	c.2378C>A	c.(2377-2379)aCc>aAc	p.T793N	ANO2_ENST00000327087.8_Missense_Mutation_p.T792N|ANO2_ENST00000546188.1_Missense_Mutation_p.T793N	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	797						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GATATCTTTGGTTCTTACAGC	0.552000													12	74					0.00010058	0.000104603	1	1	0
GRIN3A	116443	broad.mit.edu	37	9	104385691	104385691	+	Silent	SNP	G	G	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr9:104385691G>T	ENST00000361820.3	-	5	3123	c.2523C>A	c.(2521-2523)gcC>gcA	p.A841A		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	841					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)	CCATGATGAAGGCGTCTAGTT	0.423000													7	68					0.00198382	0.00202272	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			59	62					0	0	1	0	0
THUMPD3	25917	broad.mit.edu	37	3	9413032	9413032	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:9413032T>C	ENST00000345094.3	+	4	953	c.619T>C	c.(619-621)Tct>Cct	p.S207P	THUMPD3_ENST00000452837.2_Missense_Mutation_p.S207P|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.S207P	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	207	THUMP.						methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TGATTTGGCATCTTGCAAAGA	0.383000													6	73					0	0	1	0	0
FEZ1	9638	broad.mit.edu	37	11	125325916	125325916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:125325916G>A	ENST00000278919.3	-	6	988	c.754C>T	c.(754-756)Cag>Tag	p.Q252*	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	252					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)		GCCAGCTGCTGCACCAGCTCC	0.592000													28	66					0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60230557	60230557	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:60230557G>A	ENST00000534668.1	+	3	531	c.242G>A	c.(241-243)tGt>tAt	p.C81Y	MS4A1_ENST00000389939.2_Missense_Mutation_p.C81Y|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000345732.4_Missense_Mutation_p.C81Y|MS4A1_ENST00000532073.1_Missense_Mutation_p.C81Y	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	81					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GCACCCATCTGTGTGACTGTG	0.502000													37	98					0	0	1	0	0
PABPC1L	80336	broad.mit.edu	37	20	43559364	43559364	+	Silent	SNP	C	C	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr20:43559364C>G	ENST00000255136.3	+	8	1318	c.1236C>G	c.(1234-1236)ccC>ccG	p.P412P	PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000217073.2_Silent_p.P412P|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217074.4_3'UTR	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	412	Pro-rich.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CTGCCATGCCCCAGGTGACGG	0.622000													4	242					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22389711	22389711	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr4:22389711G>T	ENST00000334304.5	-	19	3852	c.3583C>A	c.(3583-3585)Cca>Aca	p.P1195T	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1195					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ACGCTCGTTGGGACATCGTAG	0.517000													31	67					8.4185e-14	9.31409e-14	1	1	0
DNM1P47	0	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													4	24					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11304446	11304446	+	Missense_Mutation	SNP	C	C	T	rs147297854		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:11304446C>T	ENST00000432929.2	-	4	670	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	KANK2_ENST00000355150.5_Missense_Mutation_p.G104S|KANK2_ENST00000589359.1_Missense_Mutation_p.G104S|KANK2_ENST00000586659.1_Missense_Mutation_p.G104S|KANK2_ENST00000589894.1_Missense_Mutation_p.G104S	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	104										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAGCCACGGCCGCAGTAGGAA	0.667000													31	168					0	0	1	0	0
TGDS	23483	broad.mit.edu	37	13	95243124	95243124	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:95243124G>A	ENST00000261296.5	-	4	416	c.296C>T	c.(295-297)gCc>gTc	p.A99V	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	99					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	p.A99V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TGTTTGTGCGGCAAAATGTAG	0.378000													4	114					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657342	143657342	+	Silent	SNP	A	A	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:143657342A>T	ENST00000392899.1	+	1	316	c.279A>T	c.(277-279)ccA>ccT	p.P93P		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AAGCCATCCCATTCCAGAGCT	0.507000													61	168					0	0	1	0	0
ZNF624	57547	broad.mit.edu	37	17	16526616	16526616	+	Silent	SNP	A	A	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:16526616A>G	ENST00000311331.7	-	6	1675	c.1584T>C	c.(1582-1584)taT>taC	p.Y528Y		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CATTACATTTATAGGGTTTTT	0.378000													22	69					0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166600	180166600	+	Silent	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr5:180166600G>A	ENST00000307832.2	-	1	499	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAGTTCACGAAACCCGCAC	0.552000													5	43					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													4	30					0.00024832	0.000255696	1	1	0
CARD11	84433	broad.mit.edu	37	7	2946317	2946317	+	Silent	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:2946317G>A	ENST00000396946.4	-	25	3823	c.3420C>T	c.(3418-3420)ggC>ggT	p.G1140G		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1140	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTGCTCCTCGCCGATCTTGT	0.657000			Mis		DLBCL								14	106					0	0	1	0	0
EYA3	2140	broad.mit.edu	37	1	28339787	28339787	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:28339787T>C	ENST00000373871.3	-	9	844	c.604A>G	c.(604-606)Att>Gtt	p.I202V	EYA3_ENST00000436342.2_Missense_Mutation_p.I76V|EYA3_ENST00000373863.3_Missense_Mutation_p.I156V|EYA3_ENST00000373864.1_Missense_Mutation_p.I46V|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000545175.1_Missense_Mutation_p.I149V|EYA3_ENST00000540618.1_Missense_Mutation_p.I156V			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	202					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TGACCAAGAATAGTATAGGTG	0.453000													16	101					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229901	7229901	+	Silent	SNP	G	G	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:7229901G>C	ENST00000379938.2	+	10	2106	c.1569G>C	c.(1567-1569)acG>acC	p.T523T	RREB1_ENST00000334984.6_Silent_p.T523T|RREB1_ENST00000379933.3_Silent_p.T523T|RREB1_ENST00000349384.6_Silent_p.T523T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	523	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACCTCCACGCCCCCGCCTC	0.687000													9	91					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	100957869	100957869	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:100957869C>G	ENST00000369162.2	-	41	6744	c.6400G>C	c.(6400-6402)Gga>Cga	p.G2134R		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	2134	SEC63 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CGAATATATCCTACTCTTTTC	0.353000													24	193					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			21	32					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100454689	100454689	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:100454689A>G	ENST00000395996.1	+	23	3382	c.3271A>G	c.(3271-3273)Att>Gtt	p.I1091V	VPS13B_ENST00000357162.2_Missense_Mutation_p.I1091V|VPS13B_ENST00000358544.2_Missense_Mutation_p.I1091V			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1091					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCAAGTACAATTGTATCTGG	0.388000													25	63					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655449	19655449	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:19655449C>T	ENST00000586018.1	+	8	2215	c.2113C>T	c.(2113-2115)Cgc>Tgc	p.R705C	CILP2_ENST00000291495.4_Missense_Mutation_p.R699C			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	699						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGGCTTCCGGCGCGAGGGGTC	0.711000													9	19					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84671509	84671509	+	Silent	SNP	T	T	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:84671509T>G	ENST00000284136.6	-	8	997	c.954A>C	c.(952-954)gcA>gcC	p.A318A		NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	318	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGTAAGTATCTGCCCCATCAC	0.423000													45	174					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26487511	26487511	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr4:26487511A>T	ENST00000295589.3	-	3	568	c.374T>A	c.(373-375)gTg>gAg	p.V125E		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	125					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGATACACTCACAGAGGTGCC	0.433000													8	18					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68842417	68842417	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:68842417C>T	ENST00000261769.5	+	4	669	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	CDH1_ENST00000422392.2_Missense_Mutation_p.P160S|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	160	Cadherin 1.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)|p.V157_Q177del(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GGTTATTCCTCCCATCAGCTG	0.468000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				9	56					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70991445	70991445	+	Silent	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:70991445G>A	ENST00000256389.3	-	2	424	c.180C>T	c.(178-180)atC>atT	p.I60I	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	10					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GAGTGACCCTGATGTGCACCA	0.522000													21	77					0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72558334	72558334	+	Splice_Site	SNP	T	T	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr15:72558334T>C	ENST00000569795.1	-	5	769		c.e5-2		PARP6_ENST00000413097.2_Splice_Site|PARP6_ENST00000260376.7_Splice_Site|PARP6_ENST00000287196.9_Splice_Site			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6								NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						ACAGCTCCCCTGAGATAGCAG	0.463000													6	38					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73012696	73012696	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:73012696C>T	ENST00000261180.4	+	13	2308	c.2212C>T	c.(2212-2214)Cct>Tct	p.P738S	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	738					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCAGAATATTCCTCTGGAGAT	0.393000													8	56					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21563436	21563436	+	Silent	SNP	C	C	T	rs143340763		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:21563436C>T	ENST00000382592.4	-	4	888	c.483G>A	c.(481-483)ggG>ggA	p.G161G	LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Silent_p.G161G	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	161					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTGGCATGAGCCCCTTTCCTG	0.607000													26	70					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278842	36278842	+	Silent	SNP	A	A	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:36278842A>C	ENST00000007510.4	+	21	3519	c.3375A>C	c.(3373-3375)tcA>tcC	p.S1125S	ARHGAP33_ENST00000314737.5_Silent_p.S964S|ARHGAP33_ENST00000378944.5_Silent_p.S961S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1125					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TTGGCCAATCACCCCCACTCC	0.667000													10	31					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24788441	24788441	+	Silent	SNP	G	G	A	rs10593509		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:24788441G>A	ENST00000395799.3	+	5	480	c.351G>A	c.(349-351)ccG>ccA	p.P117P	TNRC6A_ENST00000315183.7_Silent_p.P117P	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	117	Gln-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	p.P117P(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		agccgcagccgcagcagcagc	0.602000													20	98					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242162622	242162622	+	Silent	SNP	C	C	T	rs149644243		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:242162622C>T	ENST00000274979.8	+	22	2608	c.2505C>T	c.(2503-2505)gaC>gaT	p.D835D	ANO7_ENST00000402430.3_Silent_p.D834D	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	835						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TCCGGGATGACGATGGACATT	0.572000													38	262					0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49999238	49999238	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:49999238T>G	ENST00000257894.2	-	1	184	c.23A>C	c.(22-24)cAg>cCg	p.Q8P	FAM186B_ENST00000544141.1_5'UTR|FAM186B_ENST00000551047.1_Missense_Mutation_p.Q8P	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	8						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTCACCAACTGTGGGGGGTC	0.522000													7	26					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	373227	373227	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:373227C>T	ENST00000329962.6	+	6	572	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	191						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACGACAACTCGGAGTTCTGG	0.657000													10	61					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83403057	83403057	+	Silent	SNP	A	A	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:83403057A>G	ENST00000262752.2	-	4	340	c.333T>C	c.(331-333)tcT>tcC	p.S111S	RPS6KA6_ENST00000543399.1_Silent_p.S111S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	111	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TACCTTTTAAAGAGGCTTTTT	0.303000													8	40					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197084855	197084855	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:197084855G>C	ENST00000260983.2	-	26	4498	c.4316C>G	c.(4315-4317)tCt>tGt	p.S1439C	HECW2_ENST00000409111.1_Missense_Mutation_p.S1083C	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1439	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATCAAAAACAGATACCAGCCT	0.428000													14	33					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211525381	211525381	+	Splice_Site	SNP	T	T	A	rs113036168		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:211525381T>A	ENST00000233072.5	+	32	4123		c.e32+2		CPS1_ENST00000430249.2_Splice_Site|CPS1_ENST00000451903.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCAATTAAGGTAACATTTTCA	0.318000													11	39					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22052995	22052995	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:22052995C>T	ENST00000306385.5	+	13	2330	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Missense_Mutation_p.P554S|BMP1_ENST00000306349.8_Missense_Mutation_p.P554S|BMP1_ENST00000397816.3_Missense_Mutation_p.P554S	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	554	EGF-like 1; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GTGCTCTCGGCCCAACCGCGG	0.632000													28	85					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326883	152326883	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:152326883C>A	ENST00000388718.5	-	3	3451	c.3379G>T	c.(3379-3381)Ggc>Tgc	p.G1127C	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1127	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCAAAGCCAGAAGACTGA	0.517000													46	345					4.75955e-12	5.15618e-12	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145293426	145293426	+	Silent	SNP	T	T	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:145293426T>C	ENST00000342960.5	+	1	56	c.21T>C	c.(19-21)ccT>ccC	p.P7P	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Silent_p.P7P|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	7										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAGCCGGCCCTTGGTCCAGTG	0.498000													6	1063					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38953498	38953498	+	Silent	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:38953498G>A	ENST00000306658.7	-	4	791	c.726C>T	c.(724-726)aaC>aaT	p.N242N		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	242	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CCACGTTCACGTTGCCCCCAG	0.582000													14	83					0	0	1	0	0
HPSE2	60495	broad.mit.edu	37	10	100249850	100249850	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr10:100249850C>T	ENST00000370552.3	-	10	1483	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	HPSE2_ENST00000404542.1_Missense_Mutation_p.R363Q|HPSE2_ENST00000370546.1_Missense_Mutation_p.R475Q|HPSE2_ENST00000370549.1_Missense_Mutation_p.R417Q	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	475					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TAGTTTGTCCCGGATCACTCG	0.567000													10	157					0	0	1	0	0
BVES	11149	broad.mit.edu	37	6	105573323	105573323	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:105573323T>C	ENST00000314641.5	-	4	698	c.482A>G	c.(481-483)tAt>tGt	p.Y161C	BVES_ENST00000446408.2_Missense_Mutation_p.Y161C|BVES_ENST00000336775.5_Missense_Mutation_p.Y161C	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	161					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CTCTGCAGCATAAGTTTGGCC	0.413000													36	140					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048836	143048836	+	Silent	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:143048836G>A	ENST00000343257.2	+	23	2832	c.2745G>A	c.(2743-2745)ggG>ggA	p.G915G		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	915					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACAGGCCTGGGGCCACTGGAA	0.622000													18	67					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147050	26147050	+	Silent	SNP	T	T	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:26147050T>A	ENST00000331351.5	+	2	1244	c.852T>A	c.(850-852)atT>atA	p.I284I	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	284					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCAAACTGATTGTGGTGGTGA	0.502000													34	135					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153537745	153537745	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:153537745G>C	ENST00000369915.3	+	3	490	c.301G>C	c.(301-303)Gga>Cga	p.G101R	TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Missense_Mutation_p.G45R	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	101					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACAAGGACTGGGAGTTGCATG	0.532000													60	301					0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73513516	73513516	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:73513516C>T	ENST00000418310.1	+	5	748	c.646C>T	c.(646-648)Cac>Tac	p.H216Y	LIMK1_ENST00000538333.3_Missense_Mutation_p.H152Y|LIMK1_ENST00000336180.2_Missense_Mutation_p.H186Y|LIMK1_ENST00000491052.1_3'UTR			P53667	LIMK1_HUMAN	LIM domain kinase 1	186	PDZ.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				TGACCCCCCGCACGGCCCACC	0.672000													61	174					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000													14	53					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13401853	13401853	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:13401853C>T	ENST00000254508.5	-	15	2153	c.2071G>A	c.(2071-2073)Ggc>Agc	p.G691S		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	691					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGAGCCAGGCCGATGCTGTCA	0.567000													6	52					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154942867	154942867	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:154942867G>C	ENST00000448116.2	-	1	356	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V	SHC1_ENST00000368445.5_Missense_Mutation_p.L46V|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000606391.1_Intron	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	46					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGAGGAGGCAGGATGGGCCCC	0.662000													19	64					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56737334	56737334	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr4:56737334G>A	ENST00000381295.2	+	7	1247	c.899G>A	c.(898-900)gGc>gAc	p.G300D	EXOC1_ENST00000346134.7_Missense_Mutation_p.G300D|EXOC1_ENST00000349598.6_Missense_Mutation_p.G300D	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	300					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TCTTCCAGAGGCATTGAGGCC	0.453000													23	43					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56737333	56737333	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr4:56737333G>C	ENST00000381295.2	+	7	1246	c.898G>C	c.(898-900)Ggc>Cgc	p.G300R	EXOC1_ENST00000346134.7_Missense_Mutation_p.G300R|EXOC1_ENST00000349598.6_Missense_Mutation_p.G300R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	300					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTCTTCCAGAGGCATTGAGGC	0.448000													23	43					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													6	75					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723708	7723708	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:7723708C>G	ENST00000303635.7	+	9	1308	c.1101C>G	c.(1099-1101)aaC>aaG	p.N367K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N367K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCGGGCTCAACAGCGACCCGG	0.647000			T	WWTR1	epitheliod hemangioendothelioma								37	68					0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60230557	60230557	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:60230557G>A	ENST00000534668.1	+	3	531	c.242G>A	c.(241-243)tGt>tAt	p.C81Y	MS4A1_ENST00000389939.2_Missense_Mutation_p.C81Y|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000345732.4_Missense_Mutation_p.C81Y|MS4A1_ENST00000532073.1_Missense_Mutation_p.C81Y|MS4A1_ENST00000534503.1_3'UTR	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	81					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GCACCCATCTGTGTGACTGTG	0.502000													42	102					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70908255	70908255	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:70908255T>G	ENST00000393567.2	-	64	11051	c.10901A>C	c.(10900-10902)gAg>gCg	p.E3634A		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3634										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTCTGTGAACTCAGAGATACT	0.507000													30	78					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40318406	40318406	+	Silent	SNP	C	C	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:40318406C>T	ENST00000264661.3	-	10	2081	c.1749G>A	c.(1747-1749)ctG>ctA	p.L583L	KCNH4_ENST00000607371.1_Silent_p.L583L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	583					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CACGGCGCAACAGGTACTCGC	0.632000													16	13					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143048836	143048836	+	Silent	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:143048836G>A	ENST00000343257.2	+	23	2832	c.2745G>A	c.(2743-2745)ggG>ggA	p.G915G		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	915					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACAGGCCTGGGGCCACTGGAA	0.622000													28	53					0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69392326	69392326	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:69392326C>G	ENST00000193403.6	-	2	552	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	ACTN1_ENST00000376839.3_5'UTR|ACTN1_ENST00000538545.2_Missense_Mutation_p.E57Q|ACTN1_ENST00000438964.2_Missense_Mutation_p.E57Q|ACTN1_ENST00000394419.4_Missense_Mutation_p.E57Q	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	57	Actin-binding.|CH 1.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGGAAGTCCTCTTCGATGTTC	0.587000													27	17					0	0	1	0	0
GNL3L	54552	broad.mit.edu	37	X	54566667	54566667	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:54566667A>C	ENST00000336470.4	+	4	320	c.181A>C	c.(181-183)Aag>Cag	p.K61Q	GNL3L_ENST00000360845.2_Missense_Mutation_p.K61Q|GNL3L_ENST00000489691.1_3'UTR	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	61					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TGAATTAAAGAAGAAGTGGGT	0.498000													8	42					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73505357	73505357	+	Silent	SNP	A	A	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:73505357A>G	ENST00000326291.6	+	14	2123	c.1785A>G	c.(1783-1785)ttA>ttG	p.L595L		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	595						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CGCTGATTTTAAAAGATCTGG	0.318000													13	30					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76889172	76889172	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:76889172A>T	ENST00000373344.5	-	18	5052	c.4838T>A	c.(4837-4839)tTg>tAg	p.L1613*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.L1575*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1613	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)	TTTGTCACACAAAAGAACTGT	0.328000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						13	28					0	0	1	0	0
LPL	4023	broad.mit.edu	37	8	19811731	19811731	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:19811731A>C	ENST00000311322.8	+	5	1112	c.642A>C	c.(640-642)agA>agC	p.R214S		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	214					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CATTCACCAGAGGGTCCCCTG	0.488000													34	95					0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959819	45959819	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr21:45959819G>A	ENST00000400375.1	-	1	259	c.215C>T	c.(214-216)aCc>aTc	p.T72I	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	72	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCAGGAGCTGGTGCAGCCTGA	0.711000													4	171					0	0	1	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48249018	48249018	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:48249018C>T	ENST00000246802.5	+	1	240	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	68						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GGAAGACGTGCGGCTACAGGA	0.692000													3	25					0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14749062	14749062	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:14749062T>C	ENST00000253673.5	-	11	1439	c.1339A>G	c.(1339-1341)Act>Gct	p.T447A	EMR3_ENST00000344373.4_Missense_Mutation_p.T395A|EMR3_ENST00000443157.2_Missense_Mutation_p.T321A|EMR3_ENST00000599900.1_Missense_Mutation_p.T232A	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	447					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTCCGTGCAGTGAGGAAGAGG	0.572000													48	58					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373000													8	121					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24309870	24309870	+	Silent	SNP	C	C	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:24309870C>G	ENST00000357002.4	+	4	1183	c.1068C>G	c.(1066-1068)ggC>ggG	p.G356G	ZNF254_ENST00000342944.6_Silent_p.G271G	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	356					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AAGAATGTGGCAAAGCTTTTA	0.398000													27	37					0	0	1	0	0
PTOV1	53635	broad.mit.edu	37	19	50358106	50358106	+	Silent	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:50358106G>A	ENST00000391842.1	+	4	581	c.411G>A	c.(409-411)ccG>ccA	p.P137P	PTOV1_ENST00000221557.9_Silent_p.P105P|PTOV1_ENST00000601675.1_Silent_p.P137P|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000600603.1_Silent_p.P105P|PTOV1_ENST00000599732.1_Silent_p.P137P|PTOV1_ENST00000601638.1_Silent_p.P105P|AC018766.6_ENST00000601211.1_RNA	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		ACCAGTGGCCGCAGAAGCTGA	0.667000													3	41					0	0	1	0	0
OSTF1	26578	broad.mit.edu	37	9	77752522	77752522	+	Silent	SNP	T	T	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr9:77752522T>G	ENST00000346234.6	+	8	627	c.477T>G	c.(475-477)ctT>ctG	p.L159L		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	159			L -> F (in dbSNP:rs17850197).		ossification|signal transduction	cytoplasm	identical protein binding			endometrium(1)|skin(1)	2						TCCAGTTGCTTCTGGCAAAAG	0.388000													10	33					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50417431	50417431	+	Silent	SNP	C	C	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:50417431C>T	ENST00000435965.1	-	9	1034	c.861G>A	c.(859-861)tcG>tcA	p.S287S	CACNA2D2_ENST00000479441.1_Silent_p.S287S|CACNA2D2_ENST00000429770.1_Silent_p.S287S|CACNA2D2_ENST00000424201.2_Silent_p.S287S|CACNA2D2_ENST00000395083.1_Silent_p.S287S|CACNA2D2_ENST00000266039.3_Silent_p.S287S|CACNA2D2_ENST00000423994.2_Silent_p.S287S|CACNA2D2_ENST00000360963.3_Silent_p.S218S			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	287					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CTTTGGGTGACGAGGCCCCCT	0.567000													19	34					0	0	1	0	0
NDFIP2	54602	broad.mit.edu	37	13	80107548	80107548	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:80107548A>T	ENST00000218652.7	+	3	630	c.578A>T	c.(577-579)aAa>aTa	p.K193I		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	193					negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		GAGAAGGCTAAAGCTGCTGCA	0.388000													6	30					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118773105	118773105	+	Silent	SNP	A	A	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:118773105A>G	ENST00000334801.3	-	6	2311	c.1347T>C	c.(1345-1347)ccT>ccC	p.P449P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	449	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCTGGGGGGGAGGGGGGGCTT	0.667000													7	53					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643246	1643246	+	Silent	SNP	A	A	G	rs142004120	by1000genomes	TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:1643246A>G	ENST00000399682.1	-	1	122	c.78T>C	c.(76-78)tcT>tcC	p.S26S		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	26						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccccacagccagagccacagc	0.682000													5	87					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								26	41					0	0	1	0	0
MTO1	25821	broad.mit.edu	37	6	74183326	74183326	+	Silent	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:74183326G>A	ENST00000498286.1	+	4	1051	c.774G>A	c.(772-774)ccG>ccA	p.P258P	MTO1_ENST00000415954.2_Silent_p.P258P|MTO1_ENST00000370300.4_Silent_p.P258P|MTO1_ENST00000370305.1_Silent_p.P184P			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	258					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						AGCATATACCGGACAATCCAT	0.423000													15	36					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			19	36					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184868376	184868376	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:184868376C>T	ENST00000367511.3	-	2	315	c.122G>A	c.(121-123)tGc>tAc	p.C41Y		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	41					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						CACGTGATTGCAGAAAGCCAC	0.393000													17	120					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547135	132547135	+	Silent	SNP	G	G	A	rs144787206	byFrequency	TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:132547135G>A	ENST00000333577.4	+	48	8440	c.8331G>A	c.(8329-8331)caG>caA	p.Q2777Q	EP400_ENST00000332482.4_Silent_p.Q2704Q|EP400_ENST00000389562.2_Silent_p.Q2740Q|EP400_ENST00000389561.2_Silent_p.Q2741Q|EP400_ENST00000330386.6_Silent_p.Q2660Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2777	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacagcagc	0.592000													4	92					0	0	1	0	0
FEZ1	9638	broad.mit.edu	37	11	125325916	125325916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:125325916G>A	ENST00000278919.3	-	6	988	c.754C>T	c.(754-756)Cag>Tag	p.Q252*	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	252					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)		GCCAGCTGCTGCACCAGCTCC	0.592000													33	93					0	0	1	0	0
TAOK1	57551	broad.mit.edu	37	17	27844568	27844568	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:27844568C>G	ENST00000261716.3	+	16	2321	c.1802C>G	c.(1801-1803)gCt>gGt	p.A601G	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	601					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GAAGAAGAAGCTAACCTTCTT	0.438000													7	213					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713875	142713875	+	RNA	SNP	G	G	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:142713875G>C	ENST00000369381.2	-	0	730																											TCCTGATTATGAAAATCCTAA	0.299000													14	33					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457221	110457221	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:110457221C>T	ENST00000378402.5	+	38	5227	c.5123C>T	c.(5122-5124)aCg>aTg	p.T1708M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1708	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGAATTATACGGCCATTGAA	0.458000										HNSCC(38;0.096)			5	241					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5687543	5687543	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:5687543G>T	ENST00000546188.1	-	22	2449	c.2378C>A	c.(2377-2379)aCc>aAc	p.T793N	ANO2_ENST00000356134.5_Missense_Mutation_p.T793N|ANO2_ENST00000327087.8_Missense_Mutation_p.T792N			Q9NQ90	ANO2_HUMAN	anoctamin 2	797						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GATATCTTTGGTTCTTACAGC	0.552000													28	39					1.17739e-12	1.19108e-12	1	1	0
KANK2	25959	broad.mit.edu	37	19	11304446	11304446	+	Missense_Mutation	SNP	C	C	T	rs147297854		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:11304446C>T	ENST00000432929.2	-	4	670	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	KANK2_ENST00000589894.1_Missense_Mutation_p.G104S|KANK2_ENST00000355150.5_Missense_Mutation_p.G104S|KANK2_ENST00000586659.1_Missense_Mutation_p.G104S|KANK2_ENST00000589359.1_Missense_Mutation_p.G104S	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	104										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAGCCACGGCCGCAGTAGGAA	0.667000													46	93					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657342	143657342	+	Silent	SNP	A	A	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:143657342A>T	ENST00000392899.1	+	1	316	c.279A>T	c.(277-279)ccA>ccT	p.P93P		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AAGCCATCCCATTCCAGAGCT	0.507000													68	163					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681268	55681268	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:55681268G>T	ENST00000344514.1	-	1	790	c.791C>A	c.(790-792)tCt>tAt	p.S264Y		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S264F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAATAGGAAGAACTTGGCCG	0.448000													21	51					9.95505e-16	1.01893e-15	1	1	0
EYA3	2140	broad.mit.edu	37	1	28339787	28339787	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:28339787T>C	ENST00000373871.3	-	9	844	c.604A>G	c.(604-606)Att>Gtt	p.I202V	EYA3_ENST00000545175.1_Missense_Mutation_p.I149V|EYA3_ENST00000373863.3_Missense_Mutation_p.I156V|EYA3_ENST00000436342.2_Missense_Mutation_p.I76V|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373864.1_Missense_Mutation_p.I46V|EYA3_ENST00000540618.1_Missense_Mutation_p.I156V			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	202					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TGACCAAGAATAGTATAGGTG	0.453000													32	87					0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	952220	952220	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr4:952220A>C	ENST00000264771.4	+	11	1636	c.1451A>C	c.(1450-1452)cAc>cCc	p.H484P	TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P|TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	484						integral to membrane		p.H484P(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGGCCCGAACACCCCCCGCCA	0.736000													8	10					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			33	11					0	0	1	0	0
ABCA11P	0	broad.mit.edu	37	4	419666	419666	+	RNA	SNP	C	C	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr4:419666C>T	ENST00000451020.2	-	0	1372					NR_002451.2																						CCAAGGTAGCCTGAGAGAGGC	0.453000													14	29					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125587606	125587606	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:125587606A>G	ENST00000316519.6	+	7	952	c.746A>G	c.(745-747)gAc>gGc	p.D249G	AACS_ENST00000261686.6_Missense_Mutation_p.D249G	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	249					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GAGAACATAGACCTTTCAAAG	0.507000													57	132					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100454689	100454689	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:100454689A>G	ENST00000395996.1	+	23	3382	c.3271A>G	c.(3271-3273)Att>Gtt	p.I1091V	VPS13B_ENST00000358544.2_Missense_Mutation_p.I1091V|VPS13B_ENST00000357162.2_Missense_Mutation_p.I1091V			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1091					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCAAGTACAATTGTATCTGG	0.388000													33	64					0	0	1	0	0
PRMT6	55170	broad.mit.edu	37	1	107599651	107599651	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:107599651C>A	ENST00000361318.5	+	1	385	c.137C>A	c.(136-138)gCc>gAc	p.A46D	PRMT6_ENST00000370078.1_Missense_Mutation_p.A105D	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	105					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CAGGCCGGGGCCCGGCGCGTG	0.692000													22	48					7.45023e-12	7.45023e-12	1	1	0
WDR54	84058	broad.mit.edu	37	2	74652087	74652087	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:74652087G>A	ENST00000348227.4	+	7	708	c.620G>A	c.(619-621)cGc>cAc	p.R207H	WDR54_ENST00000461531.1_3'UTR|WDR54_ENST00000409791.1_Missense_Mutation_p.R155H	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	207										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TTATTGACCCGCATTCCAGGA	0.527000													4	125					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685793	100685793	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:100685793T>C	ENST00000306151.4	+	3	11160	c.11096T>C	c.(11095-11097)aTg>aCg	p.M3699T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3699	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTAACAACTATGCCTGTCAGC	0.507000													5	277					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26487511	26487511	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr4:26487511A>T	ENST00000295589.3	-	3	568	c.374T>A	c.(373-375)gTg>gAg	p.V125E		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	125					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGATACACTCACAGAGGTGCC	0.433000													8	21					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													7	95					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68842417	68842417	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:68842417C>T	ENST00000261769.5	+	4	669	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.P160S	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	160	Cadherin 1.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)|p.V157_Q177del(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GGTTATTCCTCCCATCAGCTG	0.468000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				26	52					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													6	103					0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70991445	70991445	+	Silent	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:70991445G>A	ENST00000256389.3	-	2	424	c.180C>T	c.(178-180)atC>atT	p.I60I	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	10					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GAGTGACCCTGATGTGCACCA	0.522000													41	42					0	0	1	0	0
XIAP	331	broad.mit.edu	37	X	123020096	123020096	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:123020096G>C	ENST00000371199.3	+	2	883	c.584G>C	c.(583-585)gGt>gCt	p.G195A	XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Missense_Mutation_p.G195A|XIAP_ENST00000355640.3_Missense_Mutation_p.G195A	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	195					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ACAGGTATTGGTGACCAAGTG	0.458000									X-linked Lymphoproliferative syndrome				23	80					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89388996	89388996	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr15:89388996G>A	ENST00000439576.2	+	7	1686	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	ACAN_ENST00000561243.1_Missense_Mutation_p.E438K|ACAN_ENST00000559004.1_Missense_Mutation_p.E438K|ACAN_ENST00000558207.1_Missense_Mutation_p.E438K|ACAN_ENST00000352105.7_Missense_Mutation_p.E438K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	438					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGAGACTGGAGAGGCCACCAG	0.647000													9	11					0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39874664	39874664	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr4:39874664G>A	ENST00000303538.8	-	21	2917	c.2378C>T	c.(2377-2379)tCc>tTc	p.S793F		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	793					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TTTCATTGGGGAAGCAAACTG	0.363000													3	7					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83403057	83403057	+	Silent	SNP	A	A	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:83403057A>G	ENST00000262752.2	-	4	340	c.333T>C	c.(331-333)tcT>tcC	p.S111S	RPS6KA6_ENST00000543399.1_Silent_p.S111S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	111	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TACCTTTTAAAGAGGCTTTTT	0.303000													13	27					0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27524038	27524038	+	Silent	SNP	A	A	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr10:27524038A>C	ENST00000396271.3	-	3	411	c.285T>G	c.(283-285)ccT>ccG	p.P95P	ACBD5_ENST00000375888.1_Silent_p.P93P|ACBD5_ENST00000375905.4_Silent_p.P60P|ACBD5_ENST00000375901.1_Intron|ACBD5_ENST00000476758.1_Intron|ACBD5_ENST00000375897.3_Intron	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	93	ACB.				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATCTTCCAATAGGATCCCAAA	0.313000													11	29					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21563436	21563436	+	Silent	SNP	C	C	T	rs143340763		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:21563436C>T	ENST00000382592.4	-	4	888	c.483G>A	c.(481-483)ggG>ggA	p.G161G	LATS2_ENST00000542899.1_Silent_p.G161G|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	161					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTGGCATGAGCCCCTTTCCTG	0.607000													33	59					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211525381	211525381	+	Splice_Site	SNP	T	T	A	rs113036168		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:211525381T>A	ENST00000233072.5	+	32	4123		c.e32+2		CPS1_ENST00000430249.2_Splice_Site|CPS1_ENST00000451903.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCAATTAAGGTAACATTTTCA	0.318000													24	46					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36050902	36050902	+	Silent	SNP	C	C	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:36050902C>T	ENST00000262623.3	-	7	889	c.861G>A	c.(859-861)ggG>ggA	p.G287G		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	287					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGTTTTCCACCCCCGACGCCA	0.607000													49	72					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr20:29625956G>A	ENST00000278882.3	+	5	580	c.200G>A	c.(199-201)aGa>aAa	p.R67K	FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K|FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K														p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338000													4	80					0	0	1	0	0
BVES	11149	broad.mit.edu	37	6	105573323	105573323	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:105573323T>C	ENST00000314641.5	-	4	698	c.482A>G	c.(481-483)tAt>tGt	p.Y161C	BVES_ENST00000446408.2_Missense_Mutation_p.Y161C|BVES_ENST00000336775.5_Missense_Mutation_p.Y161C	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	161					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CTCTGCAGCATAAGTTTGGCC	0.413000													86	114					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616306	248616306	+	Missense_Mutation	SNP	A	A	G	rs147503636	byFrequency	TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:248616306A>G	ENST00000342927.3	+	1	230	c.208A>G	c.(208-210)Atg>Gtg	p.M70V		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTCTCCATCATGGATACCAT	0.512000													17	248					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147050	26147050	+	Silent	SNP	T	T	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:26147050T>A	ENST00000331351.5	+	2	1244	c.852T>A	c.(850-852)atT>atA	p.I284I	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	284					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCAAACTGATTGTGGTGGTGA	0.502000													60	113					0	0	1	0	0
TKTL1	8277	broad.mit.edu	37	X	153537745	153537745	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:153537745G>C	ENST00000369915.3	+	3	490	c.301G>C	c.(301-303)Gga>Cga	p.G101R	TKTL1_ENST00000369912.2_Missense_Mutation_p.G45R|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	101					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACAAGGACTGGGAGTTGCATG	0.532000													66	302					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113860191	113860191	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:113860191G>T	ENST00000504030.2	+	9	1588	c.1143G>T	c.(1141-1143)atG>atT	p.M381I	HTR3A_ENST00000506841.2_Missense_Mutation_p.M413I|HTR3A_ENST00000535865.1_Missense_Mutation_p.M125I|HTR3A_ENST00000355556.2_Missense_Mutation_p.M419I|HTR3A_ENST00000299961.5_Missense_Mutation_p.M366I|HTR3A_ENST00000375498.2_Missense_Mutation_p.M387I			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	381					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TTCCAGCCATGGGAAACCACT	0.592000													32	103					9.78485e-24	1.02564e-23	1	1	0
DYNC1LI2	1783	broad.mit.edu	37	16	66766257	66766257	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:66766257T>C	ENST00000258198.2	-	7	1120	c.914A>G	c.(913-915)aAg>aGg	p.K305R	DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.K266R|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.K228R|DYNC1LI2_ENST00000379482.2_Intron	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	305					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		AACGGCATCCTTTTCCACAAC	0.363000													3	50					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20939211	20939211	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr22:20939211G>A	ENST00000263205.7	+	15	1942	c.1873G>A	c.(1873-1875)Gtc>Atc	p.V625I	MED15_ENST00000406969.1_Missense_Mutation_p.V559I|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.V514I|MED15_ENST00000425759.2_Missense_Mutation_p.V474I|MED15_ENST00000292733.7_Missense_Mutation_p.V585I|MED15_ENST00000541476.1_Missense_Mutation_p.V559I	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	625					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCTGGATGCCGTCCTGGCCAA	0.632000													67	132					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154942867	154942867	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:154942867G>C	ENST00000448116.2	-	1	356	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V	SHC1_ENST00000368450.1_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368445.5_Missense_Mutation_p.L46V	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	46					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGAGGAGGCAGGATGGGCCCC	0.662000													53	51					0	0	1	0	0
SPSB2	84727	broad.mit.edu	37	12	6981492	6981492	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:6981492G>A	ENST00000519357.1	-	2	760	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	SPSB2_ENST00000524270.1_Missense_Mutation_p.R192C|SPSB2_ENST00000523102.1_Missense_Mutation_p.R192C			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	192	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						TTCAGTCCGCGGAATGCTGGC	0.637000											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	197					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723708	7723708	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:7723708C>G	ENST00000303635.7	+	9	1308	c.1101C>G	c.(1099-1101)aaC>aaG	p.N367K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N367K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCGGGCTCAACAGCGACCCGG	0.647000			T	WWTR1	epitheliod hemangioendothelioma								46	41					0	0	1	0	0
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	76_84	c.69_77delCCTGCCGCT	c.(67-78)ctg>ct	p.LLPL23del		NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	23						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766													3	5	---	---	---	---					
AC016995.3	0	broad.mit.edu	37	2	38710023	38710023	+	RNA	DEL	T	T	-	rs2005503		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:38710023delT	ENST00000417039.1	-	0	696																											aaaaaataaataaataaataa	0.244													3	6	---	---	---	---					
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)cat>ca	p.HH931del		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	931	Poly-His.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502													7	345	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30576891	30576891	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:30576891delT	ENST00000376511.2	-	4	709	c.157delA	c.(157-159)ttfs	p.I53fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	53	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGCAGGAGAATGTTCAAGTAA	0.468													25	66	---	---	---	---					
TRGC2	0	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320	by1000genomes	TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330																											TTATTTGTCAAGgtgtgtgtgt	0.391													48	138	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46245392	46245393	+	Frame_Shift_Ins	INS	-	-	ATTTTCCA			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:46245392_46245393insATTTTCCA	ENST00000334344.6	+	15	3658_3659	c.3486_3487insATTTTCCA	c.(3484-3489)acttttfs	p.-1163fs	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Ins_p.-1014fs|ARID2_ENST00000444670.1_Frame_Shift_Ins_p.-773fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCCCAGCAACCATTTTCCAAGG	0.480			"""N, S, F"""		hepatocellular carcinoma								17	125	---	---	---	---					
VEZT	55591	broad.mit.edu	37	12	95694273	95694274	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:95694273_95694274delAT	ENST00000436874.1	+	12	2269_2270	c.2164_2165delAT	c.(2164-2166)tfs	p.I722fs	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Frame_Shift_Del_p.I674fs	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	722						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ACAGCCCTCCATTAAGCAGAGG	0.515													14	35	---	---	---	---					
CYFIP1	23191	broad.mit.edu	37	15	22935859	22935859	+	Splice_Site	DEL	G	G	-			TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr15:22935859delG	ENST00000313077.7	+	9	920		c.e9-1		CYFIP1_ENST00000560848.1_Splice_Site	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1						axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGGCTTTTCAGGTCATGGGAT	0.398													14	70	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-FG-5965-02B-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	010cbbc1-cacb-4509-9a37-1d62cff09e49	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													2	4	---	---	---	---					
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:39799059_39799060insG	ENST00000564288.1	+	37	7576_7577	c.6799_6800insG	c.(6799-6801)ggafs	p.G2267fs	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2272					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)			AGATAGTGGCAGGGAAATTTTT	0.391													7	125	---	---	---	---					
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815895	+	RNA	DEL	A	A	-	rs145239076		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr4:19815895delA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaa	0.413													4	8	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30576891	30576891	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:30576891delT	ENST00000376511.2	-	4	709	c.157delA	c.(157-159)ttfs	p.I53fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	53	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGCAGGAGAATGTTCAAGTAA	0.468													23	47	---	---	---	---					
TRGC2	0	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320	by1000genomes	TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330																											TTATTTGTCAAGgtgtgtgtgt	0.391													45	117	---	---	---	---					
POTEA	340441	broad.mit.edu	37	8	43216290	43216290	+	RNA	DEL	A	A	-			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:43216290delA	ENST00000522175.2	+	0	1543							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAAGTGGCCGAAAAAAAAATG	0.284													2	4	---	---	---	---					
SLC10A5	347051	broad.mit.edu	37	8	82606545	82606546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:82606545_82606546insC	ENST00000518568.1	-	1	1863_1864	c.662_663insG	c.(661-663)gtafs	p.V221fs		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	221						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAAAGAGATAGCCCCCACCCCC	0.470													7	183	---	---	---	---					
COL14A1	7373	broad.mit.edu	37	8	121344376	121344378	+	Splice_Site	DEL	CCA	CCA	-			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:121344376_121344378delCCA	ENST00000297848.3	+	41	4929		c.e41-1		COL14A1_ENST00000247781.3_Splice_Site|COL14A1_ENST00000309791.4_Splice_Site	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1						cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTTCTTTTCGCCAGGGCCTTCCG	0.488													18	43	---	---	---	---					
CELP	0	broad.mit.edu	37	9	135962465	135962465	+	RNA	DEL	T	T	-	rs63239560		TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr9:135962465delT	ENST00000411440.2	+	0	972					NR_001275.2																						AGGATGCCCCTGTGCCCCTCA	0.677													3	5	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46245392	46245393	+	Frame_Shift_Ins	INS	-	-	ATTTTCCA			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:46245392_46245393insATTTTCCA	ENST00000334344.6	+	15	3658_3659	c.3486_3487insATTTTCCA	c.(3484-3489)acttttfs	p.-1163fs	ARID2_ENST00000422737.1_Frame_Shift_Ins_p.-1014fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Ins_p.-773fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCCCAGCAACCATTTTCCAAGG	0.480			"""N, S, F"""		hepatocellular carcinoma								19	104	---	---	---	---					
POU4F1	5457	broad.mit.edu	37	13	79176484	79176486	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:79176484_79176486delTGG	ENST00000377208.5	-	2	535_537	c.324_326delCCA	c.(322-327)cag>ca	p.HQ108del	RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606376.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	108	Poly-His.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H108delH(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTCGAGCGCCtggtggtggtggt	0.729													3	5	---	---	---	---					
OTX2-AS1	0	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344																											CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483													3	3	---	---	---	---					
CTD-2547E10.2	0	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:21469994delA	ENST00000520823.2	-	0	749																											ACTGTACATTAAAAAAAAAAA	0.294													3	3	---	---	---	---					
PVRL2	5819	broad.mit.edu	37	19	45381598	45381600	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FG-5965-02A-11D-A29Q-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c75556da-16d0-462a-b1ae-8761c95e0222	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:45381598_45381600delGAG	ENST00000252485.4	+	6	1512_1514	c.1161_1163delGAG	c.(1159-1164)gtg>gt	p.VR387del	PVRL2_ENST00000252483.5_Intron	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	384					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGCTgagggtgaggaggaggagg	0.665													2	4	---	---	---	---