Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HEATR4	399671	broad.mit.edu	37	14	73989793	73989793	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr14:73989793G>A	uc021rwe.1	-	2	412	c.64C>T	c.(64-66)Cga>Tga	p.R22*	HEATR4_uc021rwf.1_5'UTR|HEATR4_uc010tub.1_Nonsense_Mutation_p.R22*	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CATCCCAGTCGTGGGGGCAGT	0.517000														51			10		0	0	0.058154	0	0
CCDC158	339965	broad.mit.edu	37	4	77250102	77250102	+	Silent	SNP	G	A	A	rs138548683	by1000genomes	TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr4:77250102G>A	uc003hkb.4	-	20	3102	c.2949C>T	c.(2947-2949)caC>caT	p.H983H		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	983	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTCTCCTGCGTGTAATGTGA	0.433000														71			8		0	0	0.038147	0	0
AURKC	6795	broad.mit.edu	37	19	57744018	57744018	+	Silent	SNP	C	T	T	rs141028635		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr19:57744018C>T	uc002qoe.3	+	3	594	c.405C>T	c.(403-405)agC>agT	p.S135S	AURKC_uc002qoc.3_Silent_p.S116S|AURKC_uc002qod.3_Silent_p.S101S|AURKC_uc010etv.3_Silent_p.S132S	NM_001015878	NP_003151	Q9UQB9	AURKC_HUMAN	Homo sapiens aurora kinase C (AURKC), transcript variant 1, mRNA.	135	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TGCAGAAAAGCGAGAAATTAG	0.537000														83			7		0	0	0.038147	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	A	A	rs121913499		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma									68			17		0	0	0.033300	0	0
PRDM11	56981	broad.mit.edu	37	11	45245878	45245878	+	Missense_Mutation	SNP	C	T	T			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr11:45245878C>T	uc001myo.3	+	7	1204	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	319										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TCCCTACAAGCGTGGCTTTGA	0.507000														274			17		0	0	0.033300	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140248828	140248828	+	Missense_Mutation	SNP	G	A	A			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr5:140248828G>A	uc003lia.2	+	0	998	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.R47H	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	60	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.642000														128			4		0	0	0.009096	0	0
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	T	T	rs121912656		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr17:7577547C>T	uc002gim.2	-	6	928	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_uc002gig.1_Missense_Mutation_p.G245D|TP53_uc002gih.3_Missense_Mutation_p.G245D|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113D|TP53_uc010cnf.1_Missense_Mutation_p.G113D|TP53_uc002gii.1_Missense_Mutation_p.G113D|TP53_uc010cni.1_Missense_Mutation_p.G245D|TP53_uc010cnh.1_Missense_Mutation_p.G245D|TP53_uc002gij.2_Missense_Mutation_p.G245D|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152D|TP53_uc002gio.2_Missense_Mutation_p.G113D|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(296)|p.G245D(203)|p.G245V(124)|p.G245C(51)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245A(16)|p.G244V(14)|p.G244G(13)|p.G245R(10)|p.G244A(9)|p.0?(8)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G245fs*2(4)|p.G152V(4)|p.G244R(4)|p.G245G(3)|p.G152D(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.G245E(2)|p.C242_M246>L(2)|p.S241_G245delSCMGG(2)|p.C238_M246delCNSSCMGGM(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245fs*22(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(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)		CCGGTTCATGCCGCCCATGCA	0.582000		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)				28			20		0	0	0.069288	0	0
WDR3	10885	broad.mit.edu	37	1	118483783	118483783	+	Missense_Mutation	SNP	C	T	T	rs150881258		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr1:118483783C>T	uc010oxe.1	+	7	892	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_Missense_Mutation_p.R105W	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	276						nuclear membrane|nucleolus		p.R276W(2)|p.R276L(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTCCATAATGCGGGAAGGAAG	0.423000														102			18		0	0	0.062417	0	0
LOC100125556	100125556	broad.mit.edu	37	3	125647396	125647396	+	RNA	SNP	T	C	C			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr3:125647396T>C	uc003eid.4	+	4		c.472T>C			LOC100125556_uc003eif.4_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member A pseudogene (LOC100125556), transcript variant 2, non-coding RNA.																		TGTTTCCCTATGAAGAGCACT	0.502000														116			4		0	0	0.014758	0	0
POTED	317754	broad.mit.edu	37	GL000213.1	138972	138972	+	Missense_Mutation	SNP	A	G	G			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrGL000213.1:138972A>G	uc011mfl.1	-	0	364	c.316T>C	c.(316-318)Ttc>Ctc	p.F106L		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	106						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CAGCAGGGGAAGCAGTGACAG	0.597000														88			18		0	0	0.038395	0	0
RBP3	5949	broad.mit.edu	37	10	48390167	48390167	+	Silent	SNP	G	A	A			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr10:48390167G>A	uc001jez.3	-	0	825	c.711C>T	c.(709-711)ggC>ggT	p.G237G		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	237	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.G237G(2)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCTCGGCCACGCCCCTGGTCT	0.657000														64			25		0	0	0.076483	0	0
ZNF582	147948	broad.mit.edu	37	19	56901871	56901871	+	Splice_Site	SNP	C	T	T			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr19:56901871C>T	uc002qmy.3	-	3	396	c.103_splice	c.e3-1	p.G35_splice	ZNF582_uc002qmz.1_Splice_Site_p.G4_splice	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	4	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ATTCTGACCCCTGGAATGACA	0.488000														110			4		0	0	0.009096	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117444	117444	+	RNA	SNP	G	T	T			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrGL000205.1:117444G>T	uc002kgk.4	+	0		c.822G>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CCCTCACCAGGGAAGACCTGG	0.557000														66			7		0.00198382	0.00218729	0.029380	1	0
ACTR10	55860	broad.mit.edu	37	14	58675824	58675824	+	Splice_Site	SNP	A	G	G			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr14:58675824A>G	uc001xdf.3	+	4	445	c.342_splice	c.e4+1	p.E114_splice	C14orf37_uc010tro.2_Intron	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	Homo sapiens actin-related protein 10 homolog (S. cerevisiae) (ACTR10), mRNA.	114						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						AAATATTTTGAGGTACCTGTC	0.333000														113			5		0	0	0.014758	0	0
OR51V1	283111	broad.mit.edu	37	11	5221701	5221701	+	Missense_Mutation	SNP	A	G	G			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr11:5221701A>G	uc010qyz.2	-	0	230	c.230T>C	c.(229-231)cTc>cCc	p.L77P		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L77V(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGTCAGTGAGGGCCAGCAT	0.537000														66			6		0	0	0.038147	0	0
LGALS13	29124	broad.mit.edu	37	19	40095291	40095291	+	Missense_Mutation	SNP	T	A	A			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr19:40095291T>A	uc002omb.3	+	1	105	c.65T>A	c.(64-66)aTc>aAc	p.I22N		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.	22	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TGCGTGATAATCAAAGGGACA	0.473000														138			6		0	0	0.029380	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107462	107462	+	RNA	SNP	A	T	T			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrGL000211.1:107462A>T	uc003boa.3	+	4		c.1002A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAGGGTCAATTTTTTATAT	0.294000														93			3		0	0	0.009096	0	0
TNNT3	7140	broad.mit.edu	37	11	1956135	1956135	+	Missense_Mutation	SNP	C	T	T			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr11:1956135C>T	uc001luu.4	+	13	879	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	TNNT3_uc001lun.2_Missense_Mutation_p.R119C|TNNT3_uc001luw.4_Missense_Mutation_p.R215C|TNNT3_uc001luo.4_Missense_Mutation_p.R215C|TNNT3_uc001lup.4_Missense_Mutation_p.R221C|TNNT3_uc001luq.4_Missense_Mutation_p.R215C|TNNT3_uc001lur.3_Missense_Mutation_p.R215C|TNNT3_uc010qxf.2_Missense_Mutation_p.R221C|TNNT3_uc010qxg.2_Missense_Mutation_p.R155C	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	234					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	p.R223C(2)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GAAGCTGAAACGCCAGAAATA	0.612000														185			5		0	0	0.014758	0	0
LOC100125556	100125556	broad.mit.edu	37	3	125647387	125647387	+	RNA	SNP	G	A	A			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr3:125647387G>A	uc003eid.4	+	4		c.463G>A			LOC100125556_uc003eif.4_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member A pseudogene (LOC100125556), transcript variant 2, non-coding RNA.																		ACCAGAAACTGTTTCCCTATG	0.502000														112			4		0	0	0.014758	0	0
TBX22	50945	broad.mit.edu	37	X	79279563	79279563	+	Splice_Site	SNP	C	T	T			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrX:79279563C>T	uc010nmg.1	+	4	491	c.357_splice	c.e4-1	p.R119_splice	TBX22_uc004edi.1_Splice_Site|TBX22_uc004edj.1_Splice_Site_p.R119_splice	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	119					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTCTTACAGGCGGATGTTCCC	0.483000														24			21		0	0	0.055883	0	0
HERC2P3	283755	broad.mit.edu	37	15	20658903	20658903	+	Missense_Mutation	SNP	T	C	C			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr15:20658903T>C	uc001ytg.3	-	13	1983	c.1274A>G	c.(1273-1275)cAa>cGa	p.Q425R	HERC2P3_uc010tyx.1_Intron|HERC2P3_uc001yth.4_Missense_Mutation_p.Q425R|HERC2P3_uc010tyy.2_Missense_Mutation_p.Q425R|HERC2P3_uc010tyz.1_Missense_Mutation_p.Q273R					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AATAAGTCTTTGCCATCCACA	0.368000														143			6		0	0	0.080935	0	0
XIRP2	129446	broad.mit.edu	37	2	168110545	168110545	+	Missense_Mutation	SNP	C	G	G			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr2:168110545C>G	uc002udx.3	+	9	10648	c.10559C>G	c.(10558-10560)gCt>gGt	p.A3520G	XIRP2_uc010fpn.3_Missense_Mutation_p.L427V|XIRP2_uc010fpo.3_Missense_Mutation_p.L394V|XIRP2_uc010fpq.3_Missense_Mutation_p.A3298G|XIRP2_uc010fpr.3_Missense_Mutation_p.L172V	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3345					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTTTAGAAGCTGCTGCTCCA	0.343000														97			16		0	0	0.033300	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107007	107007	+	RNA	SNP	G	A	A			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrGL000211.1:107007G>A	uc003boa.3	+	3		c.706G>A								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CTCCTGGTTAGCAGAAAATGC	0.408000														241			4		0	0	0.021553	0	0
ALMS1	7840	broad.mit.edu	37	2	73800143	73800143	+	Missense_Mutation	SNP	G	C	C			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr2:73800143G>C	uc002sje.1	+	15	11247	c.11136G>C	c.(11134-11136)caG>caC	p.Q3712H	ALMS1_uc002sjf.1_Missense_Mutation_p.Q3670H|ALMS1_uc002sjg.3_Missense_Mutation_p.Q3100H|ALMS1_uc002sjh.1_Missense_Mutation_p.Q3100H	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3712					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAATTGAACAGATTAAATTTG	0.373000														83			16		0	0	0.033300	0	0
BSN	8927	broad.mit.edu	37	3	49691063	49691064	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr3:49691063_49691064delCT	uc003cxe.4	+	4	4188_4189	c.4074_4075delCT	c.(4072-4077)agctctfs	p.S1358fs		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1358					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCTGCACAGCTCTCCTGCCTC	0.629													---	170	---	---	8	---					
CPEB4	80315	broad.mit.edu	37	5	173316976	173316977	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr5:173316976_173316977delAA	uc003mcs.4	+	0	1646_1647	c.240_241delAA	c.(238-243)gcaaaafs	p.A80fs	CPEB4_uc010jju.2_Frame_Shift_Del_p.A80fs|CPEB4_uc010jjv.3_Frame_Shift_Del_p.A80fs|CPEB4_uc011dfg.2_Frame_Shift_Del_p.A80fs	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	80							RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGAAAAAGCAAAAAGTCAGCA	0.490													---	165	---	---	39	---					
TTYH3	80727	broad.mit.edu	37	7	2687233	2687234	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr7:2687233_2687234insG	uc003smp.3	+	3	774_775	c.587_588insG	c.(586-588)gagfs	p.E196fs	TTYH3_uc010ksn.3_5'UTR|TTYH3_uc003smq.3_5'Flank	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	196						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GTGTCGCTGGAGGTGCTGGCGG	0.673													---	4	---	---	2	---					
SRRT	51593	broad.mit.edu	37	7	100482650	100482652	+	In_Frame_Del	DEL	AGG	-	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr7:100482650_100482652delAGG	uc003uwy.2	+	8	1415_1417	c.1148_1150delAGG	c.(1147-1152)aaggag>aag	p.E385del	SRRT_uc010lhl.1_In_Frame_Del_p.E385del|SRRT_uc003uxa.2_In_Frame_Del_p.E385del|SRRT_uc003uwz.2_In_Frame_Del_p.E385del	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	385	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GAGGAGGAGAAGGAGGAGGCCGG	0.581													---	342	---	---	15	---					
C12orf40	283461	broad.mit.edu	37	12	40114882	40114885	+	Frame_Shift_Del	DEL	ACAA	-	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr12:40114882_40114885delACAA	uc001rmc.3	+	12	1955_1958	c.1788_1791delACAA	c.(1786-1791)atacaafs	p.I596fs	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	596										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATGCAGGGATACAAACAGAGAGTG	0.402													---	110	---	---	23	---					
EP400NL	347918	broad.mit.edu	37	12	132603415	132603416	+	RNA	INS	-	GGCAGA	GGCAGA	rs141780032	by1000genomes	TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr12:132603415_132603416insGGCAGA	uc001ujx.1	+	0		c.725_726insGGCAGA								Homo sapiens EP400 N-terminal like (EP400NL), non-coding RNA.											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						GCAGCTCGCTGGGCAGAGGCAG	0.673													---	12	---	---	6	---					
BAIAP3	8938	broad.mit.edu	37	16	1397309	1397310	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr16:1397309_1397310insT	uc002clk.2	+	28	3025_3026	c.2867_2868insT	c.(2866-2868)agtfs	p.S956fs	BAIAP3_uc010uuz.2_Frame_Shift_Ins_p.S921fs|BAIAP3_uc010uva.2_Frame_Shift_Ins_p.S893fs|BAIAP3_uc021tag.1_Frame_Shift_Ins_p.S898fs|BAIAP3_uc002clj.3_Frame_Shift_Ins_p.S938fs|BAIAP3_uc010uvc.1_Frame_Shift_Ins_p.S885fs	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	956	MHD2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GCCCTGGTCAGTTTTTTCCACG	0.639													---	60	---	---	12	---					
ICT1	3396	broad.mit.edu	37	17	73016725	73016727	+	In_Frame_Del	DEL	AAG	-	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr17:73016725_73016727delAAG	uc002jmm.3	+	4	511_513	c.509_511delAAG	c.(508-513)aaagaa>aaa	p.E171del		NM_001545	NP_001536	Q14197	ICT1_HUMAN	Homo sapiens immature colon carcinoma transcript 1 (ICT1), mRNA.	171					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GAGCCAACAAAAGAAGATGTTAA	0.473													---	60	---	---	18	---					
BCOR	54880	broad.mit.edu	37	X	39922031	39922032	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrX:39922031_39922032delCT	uc004den.4	-	8	4432_4433	c.4140_4141delAG	c.(4138-4143)acagggfs	p.T1380fs	BCOR_uc004dep.4_Frame_Shift_Del_p.T1346fs|BCOR_uc004deo.4_Frame_Shift_Del_p.T1328fs|BCOR_uc010nhb.3_Frame_Shift_Del_p.T88fs|BCOR_uc004dem.4_Frame_Shift_Del_p.T1346fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1380					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TAGTATTCCCCTGTCAGTGGCA	0.579			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						---	27	---	---	14	---					
ATRX	546	broad.mit.edu	37	X	76939181	76939184	+	Frame_Shift_Del	DEL	AGGA	-	-			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrX:76939181_76939184delAGGA	uc004ecp.4	-	8	1796_1799	c.1564_1567delTCCT	c.(1564-1569)tcctcafs	p.S522fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.S484fs|ATRX_uc004eco.4_Frame_Shift_Del_p.S307fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.S483fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.S522fs|ATRX_uc010nly.1_Frame_Shift_Del_p.S467fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	522					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|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)	TCTGGAACTGAGGAAGGAACAGAC	0.407			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						---	204	---	---	72	---					
