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
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186																											GTCCAACCTGCACTCGCGTGG	0.602000													3	11					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44099378	44099378	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:44099378G>A	ENST00000272286.2	+	8	1234	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	382					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GACCCCACTAGACACCAACTG	0.582000													11	57					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237074	140237074	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:140237074G>A	ENST00000307360.5	+	1	1441	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T	PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A481T|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2	NP_061724.1												p.A481S(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGTGGGACGCGGACGCGCA	0.662000													5	280					0	0	1	0	0
GPX2	2877	broad.mit.edu	37	14	65409342	65409342	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr14:65409342T>G	ENST00000389614.5	-	1	189	c.103A>C	c.(103-105)Aat>Cat	p.N35H	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000447296.2_Intron|FNTB_ENST00000542227.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	35					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GAAGCCACATTCTCAATCAGC	0.577000													5	113					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	99								p.V99F(1)		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)		TAAAGTCCTAGTTCACTCTCA	0.473000													5	366					1.23904e-05	1.37893e-05	1	1	0
KLHL3	26249	broad.mit.edu	37	5	136993906	136993906	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:136993906T>C	ENST00000508657.1	-	8	1435	c.721A>G	c.(721-723)Atg>Gtg	p.M241V	KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_Missense_Mutation_p.M153V|KLHL3_ENST00000394937.3_Missense_Mutation_p.M273V|KLHL3_ENST00000309755.4_Missense_Mutation_p.M273V|KLHL3_ENST00000506491.1_Missense_Mutation_p.M191V	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	273						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TGGTATTTCATGGCCTCAATG	0.473000													44	66					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130023308	130023308	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr7:130023308C>T	ENST00000011292.3	+	5	710	c.560C>T	c.(559-561)gCc>gTc	p.A187V	CPA1_ENST00000484324.1_Missense_Mutation_p.A99V	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	187					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GTCACCCAGGCCAGTGGGGTC	0.642000													18	47					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1416304	1416304	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:1416304C>T	ENST00000270349.9	-	7	1067	c.940G>A	c.(940-942)Gcg>Acg	p.A314T	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A314T	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	314					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGGGTGGCCGCGTCAATCCAA	0.627000													9	67					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557000		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	5					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800596	70800596	+	Missense_Mutation	SNP	C	C	T	rs140476927		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr7:70800596C>T	ENST00000333538.5	+	2	933	c.299C>T	c.(298-300)cCg>cTg	p.P100L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	100						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGGGGCCTTCCGGCTACTCTT	0.463000													7	86					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104033987	104033987	+	Silent	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:104033987G>A	ENST00000388887.2	+	9	1197	c.993G>A	c.(991-993)ccG>ccA	p.P331P		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	331	EGF-like 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGATAACCCGTGTCATAGGA	0.463000													32	80					0	0	1	0	0
SERPINH1	871	broad.mit.edu	37	11	75282973	75282973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr11:75282973C>T	ENST00000524558.1	+	5	2537	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	SERPINH1_ENST00000533603.1_Nonsense_Mutation_p.Q368*|SERPINH1_ENST00000358171.3_Nonsense_Mutation_p.Q368*|SERPINH1_ENST00000525876.1_Nonsense_Mutation_p.Q151*			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	368					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CCCCTTTGACCAGGACATCTA	0.617000													21	62					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42873066	42873066	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:42873066G>A	ENST00000334370.4	+	36	6987	c.6352G>A	c.(6352-6354)Ggg>Agg	p.G2118R	MEGF8_ENST00000251268.6_Missense_Mutation_p.G2185R	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2185	PSI 6.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTGTGCAAACGGGCACCACGA	0.622000													51	54					0	0	1	0	0
MARC2	54996	broad.mit.edu	37	1	220955136	220955136	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr1:220955136C>T	ENST00000366913.3	+	7	1099	c.901C>T	c.(901-903)Cct>Tct	p.P301S	MARC2_ENST00000359316.2_Intron|MARC2_ENST00000472447.1_3'UTR	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	301	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	p.P301A(1)									CCTGTGTGATCCTTCTGAGAG	0.393000													7	99					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152763234	152763234	+	Silent	SNP	C	C	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:152763234C>A	ENST00000367255.5	-	31	4585	c.3984G>T	c.(3982-3984)cgG>cgT	p.R1328R	SYNE1_ENST00000367253.4_Silent_p.R1328R|SYNE1_ENST00000423061.1_Silent_p.R1335R|SYNE1_ENST00000413186.2_Silent_p.R1328R|SYNE1_ENST00000341594.5_Silent_p.R1394R|SYNE1_ENST00000448038.1_Silent_p.R1335R|SYNE1_ENST00000367248.3_Silent_p.R1318R|SYNE1_ENST00000265368.4_Silent_p.R1328R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1328					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGCCTCTCCCGGCTGCGCT	0.632000										HNSCC(10;0.0054)			4	148					0.184627	0.187342	1	1	0
GAB4	128954	broad.mit.edu	37	22	17444666	17444666	+	Silent	SNP	C	C	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr22:17444666C>G	ENST00000400588.1	-	9	1637	c.1530G>C	c.(1528-1530)ccG>ccC	p.P510P		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	510										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CAGTGCTCCTCGGCGGGGCTG	0.612000													3	55					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95926723	95926723	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:95926723C>T	ENST00000258499.3	-	2	1598	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	USP44_ENST00000537435.2_Missense_Mutation_p.R437H|USP44_ENST00000552440.1_Missense_Mutation_p.R437H|USP44_ENST00000393091.2_Missense_Mutation_p.R437H	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	437					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTCTAATTCACGTTGTATTTT	0.393000													11	76					0	0	1	0	0
DEK	7913	broad.mit.edu	37	6	18236804	18236804	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:18236804T>G	ENST00000397239.3	-	9	1373	c.926A>C	c.(925-927)gAt>gCt	p.D309A	DEK_ENST00000244776.7_Missense_Mutation_p.D275A	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	309	Asp/Glu-rich (acidic).				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TAAAGGTTCATCATCTGAACT	0.294000			T	NUP214	AML								6	59					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	9					0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	744513	744513	+	Silent	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr20:744513G>A	ENST00000381944.3	-	3	943	c.702C>T	c.(700-702)tgC>tgT	p.C234C	SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000217254.7_Silent_p.C234C			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	234					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										ACGCCACGAGGCAGCAGGCCA	0.612000													6	83					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578508	7578508	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr17:7578508C>T	ENST00000420246.2	-	5	554	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000269305.4_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(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)		CTGCACAGGGCAGGTCTTGGC	0.572000		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)			5	78					0	0	1	0	0
NUDT13	25961	broad.mit.edu	37	10	74879835	74879835	+	Missense_Mutation	SNP	C	C	T	rs145352986	byFrequency	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr10:74879835C>T	ENST00000357321.4	+	3	261	c.143C>T	c.(142-144)gCg>gTg	p.A48V	NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000372997.3_Missense_Mutation_p.A48V|NUDT13_ENST00000349051.5_Missense_Mutation_p.A48V	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3	Q86X67	NUD13_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 13	48							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					CAAACAGGAGCGTTTTACCTC	0.448000													25	106					0	0	1	0	0
HLA-C	3107	broad.mit.edu	37	6	31239616	31239616	+	Missense_Mutation	SNP	C	C	A	rs150810080	byFrequency	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:31239616C>A	ENST00000383329.3	-	2	117	c.103G>T	c.(103-105)Gcc>Tcc	p.A35S	HLA-C_ENST00000376228.5_Missense_Mutation_p.A35S			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	35	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CGGGACACGGCGGTGTCGAAA	0.721000													4	58					0.00909568	0.00980628	1	1	0
FBN2	2201	broad.mit.edu	37	5	127800505	127800505	+	Silent	SNP	C	C	T	rs150087436	byFrequency	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:127800505C>T	ENST00000508053.1	-	12	1712	c.738G>A	c.(736-738)gcG>gcA	p.A246A	FBN2_ENST00000262464.4_Silent_p.A246A|FBN2_ENST00000508989.1_Silent_p.A213A			P35556	FBN2_HUMAN	fibrillin 2	246	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GATGGCCCCACGCCCGTCCAA	0.607000													4	125					0	0	1	0	0
FBXW8	26259	broad.mit.edu	37	12	117448196	117448196	+	Silent	SNP	G	G	A	rs146667375	byFrequency	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:117448196G>A	ENST00000455858.2	+	8	1183	c.1110G>A	c.(1108-1110)acG>acA	p.T370T	FBXW8_ENST00000309909.5_Silent_p.T436T	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	436							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GTGACTTCACGTGTGTCAACC	0.572000													14	146					0	0	1	0	0
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													3	15					0.150653	0.155151	1	1	0
MCTP2	55784	broad.mit.edu	37	15	94927307	94927307	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr15:94927307A>G	ENST00000357742.4	+	12	1639	c.1639A>G	c.(1639-1641)Acc>Gcc	p.T547A	MCTP2_ENST00000331706.4_Missense_Mutation_p.T135A|MCTP2_ENST00000557742.1_Missense_Mutation_p.T135A|MCTP2_ENST00000451018.3_Missense_Mutation_p.T547A	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	547	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCAGACGCATACCGTCTACAA	0.433000													5	49					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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								25	36					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136588241	136588241	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:136588241T>G	ENST00000531224.1	-	11	2722	c.2470A>C	c.(2470-2472)Act>Cct	p.T824P	BCLAF1_ENST00000353331.4_Intron|BCLAF1_ENST00000530767.1_Missense_Mutation_p.T651P|BCLAF1_ENST00000392348.2_Intron|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.T822P|BCLAF1_ENST00000031135.9_Missense_Mutation_p.T42P	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	824					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGAAAAGTAGTATTTGAGTTG	0.393000													7	83					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41084138	41084138	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:41084138A>G	ENST00000324545.8	+	40	7528	c.6895A>G	c.(6895-6897)Acc>Gcc	p.T2299A	USP9X_ENST00000378308.2_Missense_Mutation_p.T2299A	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTCAGAGGAAACCGTCAAATT	0.383000													4	52					0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167752140	167752140	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:167752140T>C	ENST00000239587.5	+	2	141	c.53T>C	c.(52-54)tTg>tCg	p.L18S		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	18					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CACAGATCTTTGAGAACCACC	0.488000													31	48					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314482	54314482	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:54314482T>A	ENST00000324134.6	-	3	599	c.431A>T	c.(430-432)aAt>aTt	p.N144I	NLRP12_ENST00000345770.5_Missense_Mutation_p.N144I|NLRP12_ENST00000391772.1_Missense_Mutation_p.N144I|NLRP12_ENST00000391775.3_Missense_Mutation_p.N144I|NLRP12_ENST00000391773.1_Missense_Mutation_p.N144I|NLRP12_ENST00000351894.4_Missense_Mutation_p.N144I|NLRP12_ENST00000535162.1_Missense_Mutation_p.N144I|NLRP12_ENST00000354278.3_Missense_Mutation_p.N144I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	144					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TAGGCGCGCATTGCGGTCTTC	0.567000													46	136					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480514	140480514	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:140480514A>G	ENST00000231130.2	+	1	281	c.281A>G	c.(280-282)gAg>gGg	p.E94G	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		94	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCGGGAGGAGCTATGCGGC	0.463000													10	153					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													3	20					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100915722	100915722	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:100915722C>T	ENST00000393437.3	-	6	1966	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	LONRF2_ENST00000409647.1_Missense_Mutation_p.D200N	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	443					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TCAGTTACATCAAGCGAGAGC	0.418000													6	32					0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67400532	67400532	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr11:67400532C>T	ENST00000335385.3	-	5	679	c.592G>A	c.(592-594)Gtg>Atg	p.V198M		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	198					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						ACGAAGACCACGTGGAAACGG	0.567000													24	344					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													6	37					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95503832	95503832	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr8:95503832C>T	ENST00000297591.5	-	22	5189	c.5114G>A	c.(5113-5115)aGg>aAg	p.R1705K	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1705					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGTGAAAAACCTATTCTGACT	0.393000													6	118					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587270	179587270	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:179587270C>T	ENST00000589042.1	-	77	22468	c.22244G>A	c.(22243-22245)cGc>cAc	p.R7415H	TTN_ENST00000342992.6_Missense_Mutation_p.R6171H|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R7098H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7098	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGAGTTGGCGCTCTGTAGG	0.378000													4	135					0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8750372	8750372	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr8:8750372T>G	ENST00000276282.6	-	1	783	c.197A>C	c.(196-198)gAg>gCg	p.E66A		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	66										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GTTCAGTGCCTCAATGTCCCC	0.746000													4	19					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								4	82					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114278387	114278387	+	Silent	SNP	T	T	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr4:114278387T>C	ENST00000357077.4	+	38	8666	c.8613T>C	c.(8611-8613)atT>atC	p.I2871I	ANK2_ENST00000264366.6_Silent_p.I2838I|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2838					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATCTTCTATTCAAAAAACAG	0.373000													4	164					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	9					1	1	1	1	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													4	7					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152813393	152813393	+	Silent	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:152813393C>T	ENST00000370186.1	+	7	1343	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	ATP2B3_ENST00000359149.3_Silent_p.P353P|ATP2B3_ENST00000370181.2_Silent_p.P339P|ATP2B3_ENST00000393842.1_Silent_p.P339P|ATP2B3_ENST00000263519.4_Silent_p.P353P|ATP2B3_ENST00000349466.2_Silent_p.P353P			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	353					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAACGCACCCAAAAAGGAGA	0.592000													18	85					0	0	1	0	0
FLOT2	2319	broad.mit.edu	37	17	27208913	27208913	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr17:27208913G>A	ENST00000394906.2	-	10	1075	c.998C>T	c.(997-999)aCg>aTg	p.T333M	FLOT2_ENST00000394908.4_Missense_Mutation_p.T278M|FLOT2_ENST00000585169.1_Missense_Mutation_p.T278M|FLOT2_ENST00000577789.1_5'UTR			Q14254	FLOT2_HUMAN	flotillin 2	278					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CTCCTTGTCCGTACGCAGGAT	0.617000													4	146					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139291430	139291430	+	Splice_Site	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr9:139291430G>A	ENST00000298532.2	-	2	544	c.176C>T	c.(175-177)tCg>tTg	p.S59L		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	59					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AACAGTTACCGAGATCGGGGG	0.567000													51	108					0	0	1	0	0
SF3A2	8175	broad.mit.edu	37	19	2247981	2247981	+	Silent	SNP	A	A	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:2247981A>C	ENST00000221494.5	+	9	1249	c.831A>C	c.(829-831)ccA>ccC	p.P277P		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa		Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCGGGACCACCCCAGCTAC	0.756000													4	5					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21327629	21327629	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:21327629T>A	ENST00000256958.2	+	4	441	c.345T>A	c.(343-345)caT>caA	p.H115Q		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	115					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CTTTGCCACATTTCTTCATGG	0.323000													21	32					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	713193	713193	+	Silent	SNP	G	G	A			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr9:713193G>A	ENST00000382303.1	+	7	3079	c.2427G>A	c.(2425-2427)gaG>gaA	p.E809E	KANK1_ENST00000382297.2_Silent_p.E809E|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E651E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	809					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AATCTCTGGAGAACCCCCAGC	0.572000													17	167					0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2892078	2892078	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:2892078C>G	ENST00000380698.4	-	6	801	c.712G>C	c.(712-714)Gag>Cag	p.E238Q		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	238					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GTGCTGAGCTCCACGCCGTCG	0.642000													4	142					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139768055	139768055	+	Silent	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr8:139768055C>T	ENST00000303045.6	-	19	2366	c.1920G>A	c.(1918-1920)gcG>gcA	p.A640A	COL22A1_ENST00000435777.1_Silent_p.A640A	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	640	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGGTGGCCCCGCAGGTCCCA	0.547000										HNSCC(7;0.00092)			11	156					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													4	42					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76940500	76940500	+	Splice_Site	SNP	T	T	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76940500T>C	ENST00000373344.5	-	8	809		c.e8-2		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	AAAGCAATTCTATTAAAAGAA	0.294000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						5	31					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6187326	6187326	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:6187326C>T	ENST00000588304.1	+	12	1869	c.1423C>T	c.(1423-1425)Ccc>Tcc	p.P475S	ACSBG2_ENST00000252669.5_Missense_Mutation_p.P525S|ACSBG2_ENST00000586696.1_Missense_Mutation_p.P525S|ACSBG2_ENST00000591403.1_Missense_Mutation_p.P525S|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588485.1_Missense_Mutation_p.P338S			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	525					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAAAATGTGCCCCCCATTCC	0.483000													14	164					0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													3	16					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27100175	27100176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr1:27100175_27100176insC	ENST00000324856.7	+	16	4342_4343	c.3971_3972insC	c.(3970-3975)taccccfs	p.YP1324fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.YP1324fs|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.YP941fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1324					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Y1324fs*1(1)|p.Y1324*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTAGCCGCTACCCCCCgcagc	0.599			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								8	148	---	---	---	---					
TRMT10C	54931	broad.mit.edu	37	3	101284009	101284009	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr3:101284009delA	ENST00000309922.6	+	2	538	c.384delA	c.(382-384)gcafs	p.A128fs		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		CTAACACAGCaaaaaaaaaat	0.343													8	66	---	---	---	---					
TBL1XR1	79718	broad.mit.edu	37	3	176782756	176782756	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr3:176782756delT	ENST00000430069.1	-	3	269	c.10delA	c.(10-12)agcfs	p.S5fs	TBL1XR1_ENST00000457928.2_Frame_Shift_Del_p.S5fs			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	5	LisH.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TCATCACTGCTTATACTCATC	0.289													2	4	---	---	---	---					
LMTK2	22853	broad.mit.edu	37	7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr7:97736519_97736521delGCT	ENST00000297293.5	+	1	323_325	c.30_32delGCT	c.(28-33)aggctg>agg	p.L16del		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	16					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764													2	4	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:133220099_133220100delCA	ENST00000320574.5	-	34	4380_4381	c.4337_4338delTG	c.(4336-4338)gtgfs	p.V1447fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1447					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)					7	406	---	---	---	---					
ATP11A	23250	broad.mit.edu	37	13	113487270	113487270	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr13:113487270delG	ENST00000487903.1	+	14	1580	c.1492delG	c.(1492-1494)gggfs	p.G499fs	ATP11A_ENST00000283558.8_Frame_Shift_Del_p.G499fs|ATP11A_ENST00000375645.3_Frame_Shift_Del_p.G499fs|ATP11A_ENST00000375630.2_Frame_Shift_Del_p.G499fs			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	499					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATCGCCGGACGGGGGGAAATC	0.622													7	497	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292971	102292974	+	RNA	DEL	CTCA	CTCA	-	rs75843814		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr15:102292971_102292974delCTCA	ENST00000561463.1	+	0	1017_1020																											GATGCTGCTTCTCAGAGCTGCTGT	0.583													2	4	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													3	4	---	---	---	---					
FIZ1	84922	broad.mit.edu	37	19	56104856	56104856	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:56104856delA	ENST00000221665.3	-	3	540	c.451delT	c.(451-453)tgcfs	p.C151fs	FIZ1_ENST00000592585.1_3'UTR	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CAGACGGAGCAGGGCGCACTC	0.761													2	4	---	---	---	---					
MIR3648-1	100500862	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs3052281		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr21:9825838_9825839insGCG	ENST00000581792.1	+	0	7_8					NR_037421.1																						cggccgcgactgcggcggcggt	0.842													3	3	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal.				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.F2113fs*9(1)|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)	AGTAGAAATGATAAATAATCGTCC	0.289			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						8	12	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76909677	76909680	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76909677_76909680delCTTT	ENST00000373344.5	-	14	4439_4442	c.4225_4228delAAAG	c.(4225-4230)aaagcafs	p.KA1409fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KA1371fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1409					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)	TCCAACTCTGCTTTCTTTGCAGAC	0.319			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						8	48	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937770	76937770	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76937770delT	ENST00000373344.5	-	9	3192	c.2978delA	c.(2977-2979)aagfs	p.K994fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K956fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	994					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)	TGAAGGTTTCTTTTTTTCTTC	0.343			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						11	74	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													7	260	---	---	---	---					
RBMY2EP	159125	broad.mit.edu	37	Y	23563322	23563323	+	RNA	DEL	AC	AC	-			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrY:23563322_23563323delAC	ENST00000444169.1	-	0	86					NR_001574.2																						ATATGAAAATacacacacacac	0.302													6	12	---	---	---	---					
