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
TSR2	90121	broad.mit.edu	37	X	54470611	54470611	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:54470611G>C	uc004dte.3	+	3	437	c.435G>C	c.(433-435)gaG>gaC	p.E145D	TSR2_uc004dtf.3_Missense_Mutation_p.E50D	NM_058163	NP_477511	Q969E8	TSR2_HUMAN	Homo sapiens TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR2), mRNA.	145					rRNA processing		protein binding			breast(1)|endometrium(3)|lung(2)	6						GTGTGGAAGAGATGGAGGTGA	0.498000													65	86					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154159216	154159216	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:154159216T>C	uc004fmt.3	-	13	3020	c.2849A>G	c.(2848-2850)gAg>gGg	p.E950G		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	950	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCACCAGACTCAGTAAGGGG	0.373000													5	110					0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28331453	28331453	+	Silent	SNP	G	G	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr16:28331453G>C	uc002dpd.3	+	3	1275	c.486G>C	c.(484-486)ctG>ctC	p.L162L		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	162	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						GCCTGGCGCTGGACTTCATGC	0.692000													2	9					0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62917174	62917174	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:62917174T>G	uc004dvl.2	-	3	1231	c.392A>C	c.(391-393)aAg>aCg	p.K131T	ARHGEF9_uc011mos.1_Missense_Mutation_p.K110T|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc004dvm.1_Missense_Mutation_p.K110T|ARHGEF9_uc004dvj.2_Missense_Mutation_p.K29T|ARHGEF9_uc011mot.2_Missense_Mutation_p.K78T|ARHGEF9_uc004dvn.3_Missense_Mutation_p.K138T	NM_015185	NP_001166951	O43307	ARHG9_HUMAN	Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.	131	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CCGGCACTGCTTCAGATAGCC	0.453000													4	76					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46023170	46023170	+	Splice_Site	SNP	T	T	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:46023170T>C	uc011bal.1	-	2	168	c.56_splice	c.e2-1	p.D19_splice	FYCO1_uc003cpb.4_Splice_Site_p.D19_splice	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	19					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCACAGCATCTTTAAGACAAC	0.408000													26	33					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808237	18808237	+	Silent	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:18808237C>T	uc001bax.3	+	0	814	c.762C>T	c.(760-762)ggC>ggT	p.G254G	KLHDC7A_uc009vpg.3_Silent_p.G36G	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	254						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGGAGGGCGCCCCCAACT	0.612000													6	138					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148035253	148035253	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:148035253G>A	uc004fcp.3	+	9	2020	c.1541G>A	c.(1540-1542)cGt>cAt	p.R514H	AFF2_uc004fcq.3_Missense_Mutation_p.R504H|AFF2_uc004fcr.3_Missense_Mutation_p.R475H|AFF2_uc011mxb.2_Missense_Mutation_p.R479H|AFF2_uc004fcs.3_Missense_Mutation_p.R481H|AFF2_uc011mxc.2_Missense_Mutation_p.R155H	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	514					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.P513H(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCACCTCGTGTGGCAACT	0.567000													75	100					0	0	1	0	0
COLEC11	78989	broad.mit.edu	37	2	3691639	3691639	+	Silent	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:3691639C>T	uc002qya.3	+	6	895	c.747C>T	c.(745-747)ggC>ggT	p.G249G	COLEC11_uc002qxz.3_Silent_p.G246G|COLEC11_uc002qyb.3_Silent_p.G225G|COLEC11_uc002qyc.3_Silent_p.G225G|COLEC11_uc010ewo.3_Silent_p.G201G|COLEC11_uc010ewp.3_Silent_p.G223G|COLEC11_uc010ewq.3_Silent_p.G199G|COLEC11_uc010ewr.3_Silent_p.G199G|COLEC11_uc010ews.3_Silent_p.G175G	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	Homo sapiens collectin sub-family member 11 (COLEC11), transcript variant 1, mRNA.	249	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TGGCCTCGGGCGGCTGGAACG	0.617000													47	59					0	0	1	0	0
PNN	5411	broad.mit.edu	37	14	39648579	39648579	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr14:39648579A>G	uc001wuw.4	+	7	803	c.706A>G	c.(706-708)Aag>Gag	p.K236E		NM_002687	NP_002678	Q9H307	PININ_HUMAN	Homo sapiens pinin, desmosome associated protein (PNN), mRNA.	236	Glu-rich.|Necessary for interaction with RNPS1.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TATAAGAACTAAGACAAAGCC	0.338000													3	24					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10691360	10691360	+	Silent	SNP	A	A	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr18:10691360A>C	uc002kos.2	-	43	7047	c.6873T>G	c.(6871-6873)gtT>gtG	p.V2291V	PIEZO2_uc002koq.3_Silent_p.V146V	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2291						integral to membrane	ion channel activity										AAAGCTGGGCAACCAGGTTCT	0.428000													4	71					0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110952273	110952273	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:110952273G>C	uc011msy.2	+	4	932	c.831G>C	c.(829-831)gaG>gaC	p.E277D	ALG13_uc011msw.2_Missense_Mutation_p.E199D|ALG13_uc011msx.2_Missense_Mutation_p.E173D|ALG13_uc011msz.2_Missense_Mutation_p.E199D|ALG13_uc011mta.2_Missense_Mutation_p.E173D|ALG13_uc011mtb.2_Missense_Mutation_p.E173D	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	277	OTU.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						AAACTTTTGAGTCTGTAAGTA	0.388000													3	7					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101631898	101631898	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr5:101631898C>G	uc003knm.3	-	0	356	c.69G>C	c.(67-69)ttG>ttC	p.L23F		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	23					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCGACGCAGACAAGCGGCGCA	0.577000													21	31					0	0	1	0	0
C8orf47	203111	broad.mit.edu	37	8	99101917	99101917	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr8:99101917G>C	uc003yih.1	+	1	820	c.672G>C	c.(670-672)gaG>gaC	p.E224D	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	224	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TTTCCAAAGAGAATGAATCTC	0.483000													17	33					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747181	158747181	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:158747181A>G	uc010pir.2	-	0	245	c.245T>C	c.(244-246)tTg>tCg	p.L82S		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M81L(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AATATTAGACAACATCTTAGG	0.448000													9	149					0	0	1	0	0
PAGE1	8712	broad.mit.edu	37	X	49455852	49455852	+	Splice_Site	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:49455852C>T	uc004dom.3	-	4	425	c.292_splice	c.e4+1	p.G98_splice		NM_003785	NP_003776	O75459	GAGB1_HUMAN	Homo sapiens P antigen family, member 1 (prostate associated) (PAGE1), mRNA.	98					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					GACTACCTACCTTCTGCGGGC	0.468000													13	52					0	0	1	0	0
OR5C1	392391	broad.mit.edu	37	9	125551909	125551909	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr9:125551909G>A	uc011lzd.2	+	0	698	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ATCCACATGCGCTCGGTCGAG	0.592000													6	77					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18787332	18787332	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr10:18787332G>A	uc001ipr.2	+	3	442	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	CACNB2_uc001ipt.2_Missense_Mutation_p.A128T|CACNB2_uc009xjz.1_Missense_Mutation_p.A128T|CACNB2_uc001ips.2_Missense_Mutation_p.A128T|CACNB2_uc010qcl.2_Non-coding_Transcript|CACNB2_uc001ipu.3_Missense_Mutation_p.A100T|CACNB2_uc001ipv.3_Missense_Mutation_p.A100T|CACNB2_uc009xka.2_Missense_Mutation_p.A100T|CACNB2_uc001ipw.2_Missense_Mutation_p.A73T|CACNB2_uc001ipx.2_Missense_Mutation_p.A73T|CACNB2_uc009xkb.1_Missense_Mutation_p.A74T|CACNB2_uc010qcm.2_Missense_Mutation_p.A74T|CACNB2_uc001ipz.2_Missense_Mutation_p.A74T|CACNB2_uc001ipy.2_Missense_Mutation_p.A74T|CACNB2_uc010qcn.2_Missense_Mutation_p.A80T|CACNB2_uc010qco.1_Missense_Mutation_p.A80T|CACNB2_uc001iqa.2_Missense_Mutation_p.A80T	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	128	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTACAGTGCGGCCCATGAAGA	0.423000													4	81					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539141	56539141	+	Silent	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr19:56539141C>T	uc002qmj.3	+	6	1542	c.1542C>T	c.(1540-1542)ggC>ggT	p.G514G	NLRP5_uc002qmi.3_Silent_p.G495G	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	514	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCCCTCGAGGCGTGGTCCGGC	0.592000													14	16					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31590686	31590686	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr14:31590686C>T	uc001wrc.1	-	27	5630	c.5141G>A	c.(5140-5142)cGt>cAt	p.R1714H	HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.R1182H	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1714					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GCCAGCTCGACGTTGCAGGGA	0.507000													15	31					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31589846	31589846	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:31589846C>T	uc002rnv.1	-	20	2291	c.2212G>A	c.(2212-2214)Ggt>Agt	p.G738S		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	738					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCTTGGCCACCGATGTATATC	0.537000													8	117					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	RNA	SNP	C	C	T	rs367060		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:16946434C>T	uc010ocf.2	-	2		c.464G>A			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		CTCAGCCTTCCGCCGGGCCAG	0.672000													4	39					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70618475	70618475	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:70618475G>A	uc004dzu.4	+	23	3722	c.3671G>A	c.(3670-3672)cGg>cAg	p.R1224Q	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.R1245Q|TAF1_uc004dzv.4_Missense_Mutation_p.R398Q	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1224					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CGAAAAGAACGGCGGAGGATT	0.473000													24	34					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161016555	161016555	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr6:161016555C>G	uc003qtl.3	-	21	3420	c.3300G>C	c.(3298-3300)agG>agC	p.R1100S		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3608	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGCAGTAGTTCCTGGTCAGGC	0.498000													6	66					0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66084109	66084109	+	Silent	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr11:66084109G>A	uc001ohm.1	-	0	407	c.390C>T	c.(388-390)cgC>cgT	p.R130R		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	130	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GGGCCACACAGCGCTGGGCCG	0.701000													31	17					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89480429	89480429	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:89480429A>G	uc003dqy.3	+	12	2491	c.2266A>G	c.(2266-2268)Agt>Ggt	p.S756G	EPHA3_uc021xbf.1_Missense_Mutation_p.S756G	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	756	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTTGATCAACAGTAACTTGGT	0.478000										TSP Lung(6;0.00050)			18	37					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76813058	76813058	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:76813058C>T	uc004ecp.4	-	29	6795	c.6563G>A	c.(6562-6564)cGa>cAa	p.R2188Q	ATRX_uc004ecq.4_Missense_Mutation_p.R2150Q|ATRX_uc004eco.4_Missense_Mutation_p.R1973Q	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2188	Helicase C-terminal.				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)	ATCAACAACTCGAAAAGACAG	0.343000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						53	59					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26116671	26116671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr17:26116671G>A	uc002gzu.3	-	2	418	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	NOS2_uc010crh.1_Nonsense_Mutation_p.Q52*|NOS2_uc010wab.1_Nonsense_Mutation_p.Q52*	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	52					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TCATTCTGCTGCTTGCTGAGG	0.567000													8	184					0	0	1	0	0
HDX	139324	broad.mit.edu	37	X	83723854	83723854	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:83723854A>G	uc011mqv.2	-	3	1124	c.877T>C	c.(877-879)Tgt>Cgt	p.C293R	HDX_uc004eel.2_Missense_Mutation_p.C235R|HDX_uc004eek.2_Missense_Mutation_p.C293R	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGGACAAACAATTTCCTTCT	0.473000													9	121					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	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								40	46					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373270	86373270	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr12:86373270C>G	uc010sum.2	-	5	1465	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H	MGAT4C_uc001tal.4_Missense_Mutation_p.D412H|MGAT4C_uc001taj.4_Missense_Mutation_p.D412H|MGAT4C_uc001tak.4_Missense_Mutation_p.D412H|MGAT4C_uc001tai.4_Missense_Mutation_p.D412H|MGAT4C_uc001tah.4_Missense_Mutation_p.D412H	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	412					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCCCCAACATCTAGGGCTCCA	0.318000													4	52					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35445842	35445842	+	Silent	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr20:35445842G>A	uc021wcx.1	-	3	1442	c.1102C>T	c.(1102-1104)Ctg>Ttg	p.L368L	SOGA1_uc002xgd.1_Silent_p.L130L	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	130										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GCCTTCCCCAGGGAGCGGGTT	0.453000													9	10					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|DL476366_uc021tpf.1_5'Flank|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	2					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47754527	47754527	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr21:47754527A>G	uc002zji.4	+	2	591	c.484A>G	c.(484-486)Agt>Ggt	p.S162G	PCNT_uc002zjj.3_Missense_Mutation_p.S44G|PCNT_uc010gqk.1_Non-coding_Transcript	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	162					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTTCACAGTCAGTGACCACCC	0.552000													5	153					0	0	1	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31798186	31798186	+	Silent	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr21:31798186G>A	uc002yob.1	-	0	45	c.45C>T	c.(43-45)caC>caT	p.H15H		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	Homo sapiens keratin associated protein 13-3 (KRTAP13-3), mRNA.	15						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						AGTAACCCCCGTGGGAGCAGG	0.542000													67	83					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46793715	46793715	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr22:46793715C>T	uc003bhw.1	-	11	5557	c.5557G>A	c.(5557-5559)Gtc>Atc	p.V1853I	CELSR1_uc011arc.1_Missense_Mutation_p.V174I	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1853	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGGTGGCGACGTTGGTGGGC	0.602000													14	16					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024718	76024718	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr6:76024718T>C	uc010kbe.3	-	5	1369	c.839A>G	c.(838-840)gAa>gGa	p.E280G	FILIP1_uc003phy.1_Missense_Mutation_p.E277G|FILIP1_uc003phz.3_Missense_Mutation_p.E178G|FILIP1_uc003pia.3_Missense_Mutation_p.E277G|FILIP1_uc003pib.1_Missense_Mutation_p.E29G	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	277										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCTTCTTCTTCCCTCAGCTT	0.423000													4	87					0	0	1	0	0
UBC	7316	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr17:21730916G>T	uc002gyy.3	+	1	343	c.218G>T	c.(217-219)cGg>cTg	p.R73L				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	225	Ubiquitin-like 1.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.R73L(24)|p.R72S(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTCCTGCGTCGGAGAGGTGGT	0.552000													7	86					0.00198382	0.00198382	1	1	0
MMGT1	93380	broad.mit.edu	37	X	135047268	135047268	+	Missense_Mutation	SNP	G	G	A	rs150859420		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:135047268G>A	uc011mvw.1	-	4	588	c.506C>T	c.(505-507)tCg>tTg	p.S169L	MMGT1_uc022cet.1_Missense_Mutation_p.S74L|MMGT1_uc004ezi.1_Missense_Mutation_p.S104L	NM_173470	NP_775741	Q8N4V1	MMGT1_HUMAN	Homo sapiens membrane magnesium transporter 1 (MMGT1), mRNA.	104						Golgi membrane|early endosome membrane|endoplasmic reticulum membrane|integral to membrane	magnesium ion transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)	3						TGCTGTATCCGAAGGCCGGAA	0.358000													31	213					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170026253	170026253	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:170026253C>A	uc002ues.3	-	59	11669	c.11456G>T	c.(11455-11457)gGa>gTa	p.G3819V		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3819	LDL-receptor class A 33.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTCAGCGGATCCATCGCATTT	0.428000													17	108					1.67942e-08	1.74279e-08	1	1	0
SULT1E1	6783	broad.mit.edu	37	4	70709895	70709895	+	Silent	SNP	C	C	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr4:70709895C>T	uc003heo.3	-	6	869	c.756G>A	c.(754-756)tcG>tcA	p.S252S		NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	252					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TCATGAAGGGCGACAATTTCT	0.393000													58	124					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135649705	135649705	+	Splice_Site	SNP	T	T	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr8:135649705T>C	uc003yup.3	-	3	634	c.448_splice	c.e3+1	p.G150_splice	ZFAT_uc003yun.3_Splice_Site_p.G138_splice|ZFAT_uc003yuo.3_Splice_Site_p.G138_splice|ZFAT_uc010meh.3_Splice_Site_p.G138_splice|ZFAT_uc010mej.3_Splice_Site_p.G150_splice|ZFAT_uc010mei.3_Splice_Site|ZFAT_uc003yuq.3_Splice_Site_p.G138_splice|ZFAT_uc003yur.3_Splice_Site_p.G138_splice	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGCATTTACCTGCTTCTCCTT	0.468000													75	105					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43701105	43701105	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr15:43701105T>C	uc001zrs.3	-	25	5723	c.5575A>G	c.(5575-5577)Att>Gtt	p.I1859V	TP53BP1_uc010udp.2_Missense_Mutation_p.I1857V|TP53BP1_uc001zrq.4_Missense_Mutation_p.I1862V|TP53BP1_uc001zrr.4_Missense_Mutation_p.I1864V|TP53BP1_uc001zrp.3_Missense_Mutation_p.I276V	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1859					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CAGTCCAGAATTCTTTGCTCC	0.473000								Other conserved DNA damage response genes					6	91					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:16946438G>A	uc010ocf.2	-	2		c.460C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GCCTTCCGCCGGGCCAGCAGC	0.672000													4	34					0	0	1	0	0
TRIM41	90933	broad.mit.edu	37	5	180651435	180651435	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr5:180651435A>T	uc003mne.2	+	0	1173	c.436A>T	c.(436-438)Agg>Tgg	p.R146W	TRNA_Lys_uc021ykf.1_5'Flank|TRNA_Val_uc021ykg.1_5'Flank|MIR4638_uc021ykh.1_5'Flank|AX748230_uc003mnb.1_3'UTR|TRIM41_uc003mnc.2_Missense_Mutation_p.R146W|TRIM41_uc003mnd.2_Missense_Mutation_p.R146W|TRIM41_uc003mnf.2_Non-coding_Transcript	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Homo sapiens tripartite motif containing 41 (TRIM41), transcript variant 1, mRNA.	146	Glu-rich.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ggaggacctgaggggggagga	0.627000													28	47					0	0	1	0	0
FAM76B	143684	broad.mit.edu	37	11	95512812	95512812	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr11:95512812C>G	uc001pfn.2	-	6	963	c.651G>C	c.(649-651)aaG>aaC	p.K217N	FAM76B_uc001pfm.2_Non-coding_Transcript	NM_144664	NP_653265	Q5HYJ3	FA76B_HUMAN	Homo sapiens family with sequence similarity 76, member B (FAM76B), mRNA.	217										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGGGCTTTTTCTTTGGAGTTT	0.308000													14	126					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169699643	169699643	+	Silent	SNP	C	C	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:169699643C>A	uc001ggm.4	-	4	802	c.645G>T	c.(643-645)ctG>ctT	p.L215L	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	215	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGCTGCTTGGCAGGTAACCCC	0.512000													5	130					2.7689e-08	2.82017e-08	1	1	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr7:114270000G>A	uc003vhb.3	+	4	911	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.Q204Q|FOXP2_uc003vha.3_Silent_p.Q87Q|FOXP2_uc011kmv.2_Silent_p.Q179Q|FOXP2_uc011kmu.2_Silent_p.Q196Q|FOXP2_uc010ljz.2_Silent_p.Q87Q|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_Silent_p.Q179Q|FOXP2_uc003vgx.2_Silent_p.Q179Q|FOXP2_uc003vhc.3_Silent_p.Q204Q|FOXP2_uc003vhd.3_Silent_p.Q179Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													4	55					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44140054	44140055	+	Frame_Shift_Ins	INS	-	-	GGCTGCC	rs140464205	by1000genomes	TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr6:44140054_44140055insGGCTGCC	uc003owt.1	+	4	463_464	c.425_426insGGCTGCC	c.(424-426)ctgfs	p.L142fs		NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	142	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCTGGCTGCTGGCTGCCATCG	0.584											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5	---	---	---	---					
PTCH1	5727	broad.mit.edu	37	9	98270593	98270595	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr9:98270593_98270595delGCC	uc004avk.4	-	0	237_239	c.49_51delGGC	c.(49-51)ggcdel	p.G17del	PTCH1_uc010mro.3_5'Flank|PTCH1_uc010mrp.3_5'Flank|PTCH1_uc010mrq.3_5'Flank|PTCH1_uc004avl.4_5'Flank|PTCH1_uc004avm.4_Intron|PTCH1_uc010mrr.3_Intron|PTCH1_uc010mrt.1_5'Flank|PTCH1_uc010mru.1_5'Flank|PTCH1_uc004avo.2_Intron|PTCH1_uc010mrv.1_Intron|PTCH1_uc010mrw.1_Intron	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	17	Gly-rich.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TACAGCCGCTGCCGCCGCCGCCG	0.813													2	4	---	---	---	---					
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr14:23845057_23845058delTG	uc001wjr.3	+	1	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	IL25_uc001wjq.3_Frame_Shift_Del_p.C152fs|CMTM5_uc010akn.3_5'Flank|CMTM5_uc001wju.3_5'Flank|CMTM5_uc010ako.3_5'Flank|CMTM5_uc001wjs.3_5'Flank|CMTM5_uc001wjt.3_5'Flank|CMTM5_uc010akm.3_5'Flank	NM_022789	NP_073626	Q9H293	IL25_HUMAN	Homo sapiens interleukin 25 (IL25), transcript variant 1, mRNA.	168					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604													8	261	---	---	---	---					
SCAF1	58506	broad.mit.edu	37	19	50155567	50155569	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr19:50155567_50155569delAAG	uc002poq.3	+	6	2045_2047	c.1921_1923delAAG	c.(1921-1923)aagdel	p.K645del		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	645	Arg-rich.|Ser-rich.				RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGCGGCAGCAAGAAGAAGAAGA	0.744													2	4	---	---	---	---					
