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
KRTAP4-6	81871	broad.mit.edu	37	17	39296254	39296254	+	Silent	SNP	C	C	G	rs72483263	by1000genomes	TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:39296254C>G	ENST00000345847.4	-	1	485	c.486G>C	c.(484-486)ccG>ccC	p.P162P		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	158	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ggcagcagcacgggcggcagc	0.662000													3	30					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411626	51411626	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:51411626C>G	ENST00000319760.6	-	1	822	c.770G>C	c.(769-771)aGa>aCa	p.R257T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TGAAACAGGTCTAACATATAT	0.388000													47	70					0	0	1	0	0
SUMF1	285362	broad.mit.edu	37	3	4452611	4452611	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:4452611C>T	ENST00000272902.5	-	7	927	c.892G>A	c.(892-894)Gca>Aca	p.A298T	SUMF1_ENST00000405420.2_Missense_Mutation_p.A298T|SUMF1_ENST00000383843.5_Missense_Mutation_p.A273T|SUMF1_ENST00000458465.2_Missense_Mutation_p.A166T|SUMF1_ENST00000534863.1_Missense_Mutation_p.A298T	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	298						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CATTCCCATGCGTTCCCCACT	0.423000													10	268					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15448386	15448386	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:15448386G>A	ENST00000281513.5	-	40	4776	c.4751C>T	c.(4750-4752)gCc>gTc	p.A1584V	NBAS_ENST00000441750.1_Missense_Mutation_p.A1464V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1584										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGCCAATCGGGCATAGATCTG	0.473000													4	113					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137591840	137591840	+	Silent	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr9:137591840C>T	ENST00000371817.3	+	3	777	c.363C>T	c.(361-363)aaC>aaT	p.N121N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	121	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCATCTACAACGAGCAGGGTA	0.587000													47	84					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179605461	179605461	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:179605461G>C	ENST00000589042.1	-	48	12723	c.12499C>G	c.(12499-12501)Cta>Gta	p.L4167V	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L3929V|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.L3804V|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L3996V|TTN_ENST00000591111.1_Missense_Mutation_p.L3850V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3850							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)			TCAGGCATTAGAATACCTTCT	0.428000													46	119					0	0	1	0	0
KLHL2	11275	broad.mit.edu	37	4	166239115	166239115	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr4:166239115T>G	ENST00000226725.6	+	14	2006	c.1747T>G	c.(1747-1749)Tat>Gat	p.Y583D	KLHL2_ENST00000421009.2_Missense_Mutation_p.Y486D|KLHL2_ENST00000514860.1_Missense_Mutation_p.Y587D|KLHL2_ENST00000538127.1_Missense_Mutation_p.Y495D|KLHL2_ENST00000506761.1_Missense_Mutation_p.Y417D|KLHL2_ENST00000509028.1_3'UTR	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	583					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AGGGAGAAGTTATGCAGGTAA	0.368000													44	57					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804618	27804618	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:27804618C>T	ENST00000408964.2	+	1	5230	c.5179C>T	c.(5179-5181)Cgc>Tgc	p.R1727C		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1727	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGGAGCCATCGCAGTCCCTC	0.562000													216	259					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40498723	40498723	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:40498723G>A	ENST00000264657.5	-	3	449	c.137C>T	c.(136-138)gCg>gTg	p.A46V	STAT3_ENST00000404395.3_Missense_Mutation_p.A46V|STAT3_ENST00000585517.1_Missense_Mutation_p.A46V|STAT3_ENST00000588969.1_Missense_Mutation_p.A46V|STAT3_ENST00000389272.3_5'UTR	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	46					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.A46V(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TTTGCTGGCCGCATATGCCCT	0.433000									Hyperimmunoglobulin E Recurrent Infection Syndrome				6	494					0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46627789	46627789	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr22:46627789G>A	ENST00000396000.2	+	7	1077	c.812G>A	c.(811-813)cGc>cAc	p.R271H	PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Missense_Mutation_p.R271H|PPARA_ENST00000402126.1_Missense_Mutation_p.R271H|PPARA_ENST00000407236.1_Missense_Mutation_p.R271H			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	271					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	GCGGAGGTCCGCATCTTTCAC	0.557000													4	112					0	0	1	0	0
G2E3	55632	broad.mit.edu	37	14	31074772	31074772	+	Nonsense_Mutation	SNP	A	A	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr14:31074772A>T	ENST00000206595.6	+	11	1226	c.1072A>T	c.(1072-1074)Aaa>Taa	p.K358*	G2E3_ENST00000553504.1_Nonsense_Mutation_p.K388*|G2E3_ENST00000438909.2_Nonsense_Mutation_p.K312*|G2E3_ENST00000544007.1_Intron	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	358					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATTCCAAATTAAAAAAAAAAC	0.274000													22	35					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118373222	118373222	+	Silent	SNP	C	C	G			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:118373222C>G	ENST00000534358.1	+	27	6638	c.6615C>G	c.(6613-6615)ccC>ccG	p.P2205P	KMT2A_ENST00000389506.5_Silent_p.P2202P|KMT2A_ENST00000354520.4_Silent_p.P2164P	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CCTTATCACCCCAGCGGTCCA	0.498000													4	130					0	0	1	0	0
LOC101243545	101243545	broad.mit.edu	37	3	161147301	161147301	+	RNA	SNP	A	A	G			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:161147301A>G	ENST00000473595.1	+	0	1350				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						ACACCTTTCAACACTGCCTTC	0.552000													5	161					0	0	1	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs145791878	by1000genomes	TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY.					intracellular	zinc ion binding	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323000													5	83					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94651006	94651006	+	Silent	SNP	T	T	G			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr1:94651006T>G	ENST00000260526.6	-	17	1994	c.1812A>C	c.(1810-1812)acA>acC	p.T604T	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	604					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTGACATCAATGTTTTCTTAA	0.348000													36	92					0	0	1	0	0
GPER1	2852	broad.mit.edu	37	7	1131651	1131651	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr7:1131651T>C	ENST00000397092.1	+	3	1171	c.287T>C	c.(286-288)cTg>cCg	p.L96P	C7orf50_ENST00000397100.2_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.L96P|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000297469.3_Missense_Mutation_p.L96P|GPER1_ENST00000401670.1_Missense_Mutation_p.L96P	NM_001039966.1	NP_001035055.1			G protein-coupled estrogen receptor 1	96																	ATCCCCGACCTGTACTTCATC	0.577000													39	65					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76909614	76909614	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chrX:76909614G>A	ENST00000373344.5	-	14	4505	c.4291C>T	c.(4291-4293)Caa>Taa	p.Q1431*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q1393*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1431					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)	GAATCTTCTTGAACCTTAATA	0.353000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						113	18					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155757	12155757	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:12155757C>A	ENST00000602107.1	-	5	599	c.600G>T	c.(598-600)agG>agT	p.R200S	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.R153S|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAACCTGAATGCTT	0.423000													5	356					0.000602214	0.00061278	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	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								61	102					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85623368	85623368	+	Silent	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr12:85623368C>T	ENST00000393217.2	+	25	4957	c.4896C>T	c.(4894-4896)taC>taT	p.Y1632Y	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1632										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AATATACATACCAATGGCTTC	0.358000													62	118					0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190531397	190531397	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:190531397G>A	ENST00000260952.4	+	4	952	c.539G>A	c.(538-540)aGa>aAa	p.R180K	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	180	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GGACTTTTCAGAATTGATCTT	0.363000													5	231					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61958759	61958759	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:61958759C>T	ENST00000332800.7	-	2	264	c.131G>A	c.(130-132)cGt>cAt	p.R44H	GH2_ENST00000423893.2_Missense_Mutation_p.R44H|GH2_ENST00000456543.2_Missense_Mutation_p.R44H|GH2_ENST00000449787.2_Missense_Mutation_p.R44H	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	44				Missing (in Ref. 6; AA sequence).		extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GTACAGGCGACGGGCGCGGAG	0.572000													6	852					0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87782360	87782360	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr16:87782360G>A	ENST00000270583.5	-	5	483	c.425C>T	c.(424-426)gCc>gTc	p.A142V	KLHDC4_ENST00000347925.5_Missense_Mutation_p.A142V|KLHDC4_ENST00000353170.5_Missense_Mutation_p.A85V	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	142										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GTTGGGAGAGGCAAACTCCCC	0.547000													5	327					0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131915673	131915673	+	Missense_Mutation	SNP	G	G	A	rs28903088	byFrequency	TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr5:131915673G>A	ENST00000378823.3	+	5	1072	c.254G>A	c.(253-255)cGt>cAt	p.R85H	RAD50_ENST00000487596.1_3'UTR|RAD50_ENST00000265335.6_Missense_Mutation_p.R224H	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	224					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGAGATTCGTGATCAGATT	0.348000								Homologous recombination					90	192					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98409857	98409857	+	Splice_Site	SNP	C	C	G			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:98409857C>G	ENST00000186436.5	-	30	3774		c.e30+1			NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TGTGAACATACTTTCCTTCAG	0.403000													4	91					0	0	1	0	0
C4orf19	55286	broad.mit.edu	37	4	37592609	37592609	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr4:37592609A>C	ENST00000284437.6	+	3	1110	c.932A>C	c.(931-933)gAt>gCt	p.D311A	RELL1_ENST00000314117.4_3'UTR|C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.D311A	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	311										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GAAGATTTGGATGAGACTGAT	0.552000													49	78					0	0	1	0	0
BAK1	578	broad.mit.edu	37	6	33543199	33543199	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr6:33543199G>A	ENST00000374467.3	-	4	474	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	BAK1_ENST00000360661.5_Missense_Mutation_p.R76W|BAK1_ENST00000442998.2_Missense_Mutation_p.R76W	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	76					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GCGAGCTGCCGTCCCACCTGC	0.617000													4	90					0	0	1	0	0
LOC101929950	101929950	broad.mit.edu	37	17	36358981	36358981	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:36358981C>T	ENST00000312412.4	-	6	709	c.710G>A	c.(709-711)cGc>cAc	p.R237H	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R82H																kidney(1)|lung(3)	4						AACAGGTGTGCGGGCAAACTT	0.353000													7	1060					0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967509	142967509	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chrX:142967509C>T	ENST00000370494.1	+	1	337	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	103							acid-amino acid ligase activity	p.R103C(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCAGATCCGCACAGTTCT	0.423000													4	110					0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62597735	62597735	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr20:62597735G>A	ENST00000450537.1	-	5	853	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S|ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGGTGACCGGCACAGACTTG	0.572000													6	805					0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156745897	156745897	+	Silent	SNP	T	T	C			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:156745897T>C	ENST00000470811.1	+	13	1797	c.462T>C	c.(460-462)tcT>tcC	p.S154S	LEKR1_ENST00000356539.4_Silent_p.S458S			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TACAGATATCTGACTTAATCA	0.343000													39	58					0	0	1	0	0
LOC654342	654342	broad.mit.edu	37	2	91843518	91843518	+	RNA	SNP	T	T	C			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:91843518T>C	ENST00000609777.1	-	0	74																											CTTGGGGGTCTGGCCAGCAGT	0.582000													7	119					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235706	3235706	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chrX:3235706C>T	ENST00000217939.6	-	6	6170	c.6016G>A	c.(6016-6018)Gaa>Aaa	p.E2006K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2006	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCGGTTTTCGTGCAGGGTG	0.622000													22	21					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			104	5					0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959819	45959819	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr21:45959819G>A	ENST00000400375.1	-	1	259	c.215C>T	c.(214-216)aCc>aTc	p.T72I	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	72	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCAGGAGCTGGTGCAGCCTGA	0.711000													5	212					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043714	56043714	+	Silent	SNP	T	T	C			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:56043714T>C	ENST00000313033.2	+	1	686	c.600T>C	c.(598-600)tcT>tcC	p.S200S		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S200S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTGCTATTTCTTGTTCTGACA	0.398000													171	234					0	0	1	0	0
POLR1E	64425	broad.mit.edu	37	9	37500851	37500851	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr9:37500851G>A	ENST00000377792.3	+	9	1375	c.1087G>A	c.(1087-1089)Gga>Aga	p.G363R	POLR1E_ENST00000377798.4_Missense_Mutation_p.G301R|POLR1E_ENST00000442009.2_Missense_Mutation_p.G231R			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	363					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TCTGGGACCTGGAGTTCCCCA	0.483000													42	48					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15061177	15061177	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:15061177C>T	ENST00000430939.2	-	9	1462	c.1333G>A	c.(1333-1335)Gta>Ata	p.V445I	SLC1A6_ENST00000221742.3_Missense_Mutation_p.V509I|SLC1A6_ENST00000600144.1_Missense_Mutation_p.V431I			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	509					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.V509I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TCCCCCAGTACGTTGGTCATT	0.577000													33	66					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038819	17038819	+	Splice_Site	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:17038819C>T	ENST00000443236.1	-	25	3542	c.3511G>A	c.(3511-3513)Ggg>Agg	p.G1171R		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1124						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACAGACGCACCGATGATGGAG	0.637000													43	65					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519890	69519890	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr4:69519890C>T	ENST00000338206.5	-	5	1187	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	393					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CAAGGGAATGCCCACCATAGG	0.463000													6	506					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11346350	11346350	+	Silent	SNP	G	G	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:11346350G>T	ENST00000294618.7	-	21	2489	c.2478C>A	c.(2476-2478)cgC>cgA	p.R826R	DOCK6_ENST00000319867.7_Silent_p.R130R	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	826			R -> C (in dbSNP:rs35881692).		blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGCAGTGACCGCGGGCATCCT	0.617000													3	38					1	1	1	1	0
SETBP1	26040	broad.mit.edu	37	18	42532372	42532372	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr18:42532372G>A	ENST00000282030.5	+	4	3363	c.3067G>A	c.(3067-3069)Gca>Aca	p.A1023T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1023						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGGTAGGCCTGCAAAAACCAA	0.448000									Schinzel-Giedion syndrome				4	165					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885616	39885616	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr15:39885616C>T	ENST00000260356.5	+	19	3179	c.3014C>T	c.(3013-3015)gCt>gTt	p.A1005V		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1005	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GAGTTTAATGCTGTGGACTTC	0.488000													9	667					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701454	143701454	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr7:143701454G>A	ENST00000408922.2	+	1	433	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GCCTATGACCGGTATGTGGCC	0.522000													4	178					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													3	6	---	---	---	---					
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													7	305	---	---	---	---					
RFTN1	23180	broad.mit.edu	37	3	16411682	16411685	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:16411682_16411685delCTGT	ENST00000334133.4	-	6	1200_1203	c.928_931delACAG	c.(928-933)acagtgfs	p.TV310fs	RFTN1_ENST00000432519.1_Frame_Shift_Del_p.TV274fs|RFTN1_ENST00000483671.1_5'UTR	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	310						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AAACCGCTCACTGTCTGGCCATTC	0.510													124	370	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32521843	32521844	+	RNA	DEL	CT	CT	-	rs67101368		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr6:32521843_32521844delCT	ENST00000411500.1	-	0	740					NR_001298.1																						AGAAGGCTACCTCCTGTAAGAA	0.356													4	6	---	---	---	---					
MTHFD1L	25902	broad.mit.edu	37	6	151358163	151358164	+	Frame_Shift_Ins	INS	-	-	A			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr6:151358163_151358164insA	ENST00000367321.3	+	26	3031_3032	c.2757_2758insA	c.(2758-2760)aaafs	p.K920fs		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	920	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	p.L914fs*14(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACCAACCTGACAAAAAAGGTGT	0.480													7	189	---	---	---	---					
ALOX5	240	broad.mit.edu	37	10	45941070	45941072	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr10:45941070_45941072delAAG	ENST00000374391.2	+	14	2013_2015	c.1960_1962delAAG	c.(1960-1962)aagdel	p.K656del	ALOX5_ENST00000542434.1_In_Frame_Del_p.K599del|RP11-67C2.2_ENST00000435635.1_RNA	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	656	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TGAGCGCAACAAGAAGAAGCAGC	0.547													57	146	---	---	---	---					
GLUD1P7	414212	broad.mit.edu	37	10	48980053	48980053	+	RNA	DEL	A	A	-			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr10:48980053delA	ENST00000594520.1	+	0	864																											aaaattatacaaaaaaaaaaG	0.443													4	7	---	---	---	---					
C12orf29	91298	broad.mit.edu	37	12	88442074	88442076	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr12:88442074_88442076delGTT	ENST00000356891.3	+	7	1056_1058	c.853_855delGTT	c.(853-855)gttdel	p.V285del		NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	285										large_intestine(3)|lung(1)|ovary(1)	5						TTCAAGACCAGTTATTATCAACA	0.335													52	119	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													2	4	---	---	---	---					
WFIKKN2	124857	broad.mit.edu	37	17	48917204	48917204	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:48917204delC	ENST00000311378.4	+	2	1083	c.555delC	c.(553-555)agcfs	p.S185fs	WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.S92fs	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	185						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CCAACACCAGCCCCCCACCAC	0.627													29	73	---	---	---	---					
KCTD1	284252	broad.mit.edu	37	18	24128223	24128225	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr18:24128223_24128225delTCC	ENST00000417602.1	-	1	275_277	c.276_278delGGA	c.(274-279)gaggaa>gaa	p.92_93EE>E	KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000317932.7_Intron	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	0	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ctcctcctcttcctcctcctcct	0.655													2	4	---	---	---	---					
MN1	4330	broad.mit.edu	37	22	28195603	28195605	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr22:28195603_28195605delTGC	ENST00000302326.4	-	1	1881_1883	c.927_929delGCA	c.(925-930)cagcat>cat	p.Q309del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	309							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GAACACACCAtgctgctgctgct	0.640			T	ETV6	"""AML, meningioma"""								2	4	---	---	---	---					
