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
MUC7	4589	broad.mit.edu	37	4	71347534	71347534	+	Missense_Mutation	SNP	G	G	A	rs145866670		TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr4:71347534G>A	ENST00000413702.1	+	4	1361	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	MUC7_ENST00000304887.5_Missense_Mutation_p.R358Q|MUC7_ENST00000456088.1_Missense_Mutation_p.R358Q	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	358						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AAAATTTCTCGATTTCTTTTA	0.358000													5	69					0	0	0.000602214	0	0
IGHV2-26	0	broad.mit.edu	37	14	106757779	106757779	+	RNA	SNP	G	G	A			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr14:106757779G>A	ENST00000390611.2	-	0	251																											AGGATTTTTCGTCATTCGAAA	0.532000													27	58					0	0	0.00395357	0	0
GPRASP1	9737	broad.mit.edu	37	X	101909851	101909851	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chrX:101909851G>C	ENST00000537097.1	+	6	1823	c.1010G>C	c.(1009-1011)cGa>cCa	p.R337P	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.R337P|GPRASP1_ENST00000361600.5_Missense_Mutation_p.R337P|GPRASP1_ENST00000415986.1_Missense_Mutation_p.R337P	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	337						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGGCCAAGCGAGAAGCTTGC	0.478000													5	107					0	0	0.00116845	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S			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								20	39					1.10923e-09	5.40147e-09	0.00278032	1	0
OR10H3	26532	broad.mit.edu	37	19	15852474	15852474	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr19:15852474G>A	ENST00000305892.1	+	1	272	c.272G>A	c.(271-273)cGt>cAt	p.R91H		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTCACCCATCGTTCCATCACC	0.498000													10	381					0	0	0.00185496	0	0
VIT	5212	broad.mit.edu	37	2	37032683	37032683	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr2:37032683C>T	ENST00000379242.3	+	14	1567	c.1265C>T	c.(1264-1266)aCg>aTg	p.T422M	VIT_ENST00000497382.1_Missense_Mutation_p.T76M|VIT_ENST00000389975.3_Missense_Mutation_p.T407M|VIT_ENST00000401530.1_Missense_Mutation_p.T386M|VIT_ENST00000379241.3_Missense_Mutation_p.T385M|VIT_ENST00000404084.1_Missense_Mutation_p.T359M	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	407	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GGCTGGCCCACGGACAAAGTG	0.502000													16	85					0	0	0.00400662	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853295	70853295	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr7:70853295C>T	ENST00000333538.5	+	3	1131	c.497C>T	c.(496-498)tCg>tTg	p.S166L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	166	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAGGCCCTGTCGGTGATCCTG	0.542000													7	68					0	0	0.00198382	0	0
SEMA7A	8482	broad.mit.edu	37	15	74709961	74709961	+	Missense_Mutation	SNP	G	G	A	rs140327601		TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr15:74709961G>A	ENST00000261918.4	-	5	1069	c.521C>T	c.(520-522)cCg>cTg	p.P174L	SEMA7A_ENST00000542748.1_Missense_Mutation_p.P9L|SEMA7A_ENST00000543145.2_Missense_Mutation_p.P160L	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	174	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GTTCTCGTCCGGGCTGAAGGG	0.612000													15	33					0	0	0.00074312	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910618	101910618	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chrX:101910618G>C	ENST00000537097.1	+	6	2590	c.1777G>C	c.(1777-1779)Gat>Cat	p.D593H	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.D593H|GPRASP1_ENST00000361600.5_Missense_Mutation_p.D593H|GPRASP1_ENST00000415986.1_Missense_Mutation_p.D593H	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	593	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GACCTATATGGATTGTAGGGC	0.507000													3	134					0	0	6.4e-05	0	0
DLGAP3	58512	broad.mit.edu	37	1	35334404	35334404	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr1:35334404T>G	ENST00000373347.1	-	9	2555	c.2287A>C	c.(2287-2289)Acc>Ccc	p.T763P	DLGAP3_ENST00000235180.4_Missense_Mutation_p.T763P			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	763					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				gggccgggggtgggggcgggg	0.766000													3	21					0	0	0.00116845	0	0
TSPAN16	26526	broad.mit.edu	37	19	11417342	11417342	+	Silent	SNP	G	G	A			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr19:11417342G>A	ENST00000316737.1	+	5	663	c.513G>A	c.(511-513)acG>acA	p.T171T	CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000590327.1_Silent_p.T171T|TSPAN16_ENST00000592955.1_Silent_p.T146T	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	171						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						AAATGACAACGGGCCACACCT	0.488000													5	65					0	0	0.00198382	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049093	42049093	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr1:42049093G>A	ENST00000372584.1	-	3	2390	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	HIVEP3_ENST00000247584.5_Missense_Mutation_p.T459M|HIVEP3_ENST00000429157.2_Missense_Mutation_p.T459M|HIVEP3_ENST00000372583.1_Missense_Mutation_p.T459M	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	459	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GATCACCTGCGTCCGGGGTAC	0.637000													12	48					0	0	0.000978159	0	0
LONRF1	91694	broad.mit.edu	37	8	12595574	12595574	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr8:12595574T>C	ENST00000398246.3	-	4	1112	c.1043A>G	c.(1042-1044)aAa>aGa	p.K348R	LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	348					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		AGGTCTGTTTTTAGTACATGG	0.363000													16	41					0	0	0.00400662	0	0
MAP3K13	9175	broad.mit.edu	37	3	185161243	185161243	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr3:185161243A>G	ENST00000265026.3	+	4	1004	c.670A>G	c.(670-672)Act>Gct	p.T224A	MAP3K13_ENST00000446828.1_Missense_Mutation_p.T17A|MAP3K13_ENST00000443863.1_Missense_Mutation_p.T80A|MAP3K13_ENST00000535426.1_Missense_Mutation_p.T80A|MAP3K13_ENST00000424227.1_Missense_Mutation_p.T224A	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	224	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGGTGTTTGTACTCAGGCCCC	0.363000													3	59					0	0	6.4e-05	0	0
MMP16	4325	broad.mit.edu	37	8	89339322	89339322	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr8:89339322C>G	ENST00000286614.6	-	1	395	c.114G>C	c.(112-114)gaG>gaC	p.E38D	RP11-586K2.1_ENST00000523254.1_RNA|MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	38					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGAAATACTGCTCCGTTCCGC	0.507000													3	104					0	0	0.00024832	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44021694	44021694	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr2:44021694A>G	ENST00000260605.8	+	6	519	c.419A>G	c.(418-420)aAa>aGa	p.K140R	DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.K14R|DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.K140R|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.K140R	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	140						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATGTAGACAAAGTGATAATG	0.408000													4	65					0	0	0.000602214	0	0
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	RNA	DEL	AT	AT	-			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262													3	4	---	---	---	---					
KIAA1009	22832	broad.mit.edu	37	6	84896233	84896233	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr6:84896233delA	ENST00000403245.3	-	12	1332	c.1218delT	c.(1216-1218)ttfs	p.F406fs	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	406					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATTTTTGTCAAAAAAAAGGT	0.358													7	191	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578444	7578449	+	In_Frame_Del	DEL	GATGGC	GATGGC	-			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr17:7578444_7578449delGATGGC	ENST00000420246.2	-	5	613_618	c.481_486delGCCATC	c.(481-486)del	p.AI161del	TP53_ENST00000445888.2_In_Frame_Del_p.AI161del|TP53_ENST00000269305.4_In_Frame_Del_p.AI161del|TP53_ENST00000413465.2_In_Frame_Del_p.AI161del|TP53_ENST00000359597.4_In_Frame_Del_p.AI161del|TP53_ENST00000455263.2_In_Frame_Del_p.AI161del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	161	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; 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.A161T(54)|p.A161D(11)|p.I162F(10)|p.A161V(8)|p.0?(8)|p.I162S(7)|p.I162N(6)|p.I162V(5)|p.A161A(5)|p.I162I(4)|p.I162_Y163>N(3)|p.I162M(3)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.I162fs*10(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.I162fs*19(2)|p.V157_C176del20(1)|p.A68D(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.A161S(1)|p.I30_Y31>N(1)|p.A161fs*19(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.I69_Y70>N(1)|p.A29D(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.I162_Y163delIY(1)|p.I69S(1)|p.A161fs*20(1)|p.I30fs*10(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.I69N(1)|p.A161G(1)|p.S149fs*72(1)|p.I162fs*8(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.I30N(1)|p.I69fs*10(1)|p.R156fs*20(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.R158fs*8(1)|p.I30S(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)		ACTGCTTGTAGATGGCCATGGCGCGG	0.631		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)			38	25	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939673	76939674	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chrX:76939673_76939674insT	ENST00000373344.5	-	9	1288_1289	c.1074_1075insA	c.(1072-1077)aatgatfs	p.ND358fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.ND320fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	358					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)	GTCTCAATCAGTTTTTTTGCCT	0.366			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						53	96	---	---	---	---