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
SLC9B1	150159	broad.mit.edu	37	4	103822448	103822448	+	Silent	SNP	G	G	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr4:103822448G>A	ENST00000296422.7	-	12	1515	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	458						integral to membrane	solute:hydrogen antiporter activity										AGTGGGGTGCGGAGACTCTTG	0.428000													15	216					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066171	23066171	+	Missense_Mutation	SNP	G	G	A	rs138932459		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr20:23066171G>A	ENST00000246006.4	-	1	806	c.659C>T	c.(658-660)gCg>gTg	p.A220V		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	220			A -> V (in a colorectal cancer sample; somatic mutation).		cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.A220V(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TACATTGGCCGCAGAGGCAAA	0.617000													4	87					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64601218	64601218	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr11:64601218G>A	ENST00000342711.5	-	22	2556	c.2557C>T	c.(2557-2559)Cgc>Tgc	p.R853C		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	853					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						ACCCCCATGCGCAGGCTGCGT	0.687000													3	40					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138857058	138857058	+	Silent	SNP	T	T	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chrX:138857058T>C	ENST00000370557.1	-	19	3034	c.2007A>G	c.(2005-2007)aaA>aaG	p.K669K	ATP11C_ENST00000370543.1_Silent_p.K672K|ATP11C_ENST00000327569.3_Silent_p.K672K|ATP11C_ENST00000361648.2_Silent_p.K672K|ATP11C_ENST00000359686.2_Silent_p.K672K|ATP11C_ENST00000460773.1_5'UTR			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	672					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GCACCCAGACTTTCAGGCCTG	0.483000													5	46					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112022266	112022266	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chrX:112022266C>A	ENST00000371959.3	-	10	3115	c.3116G>T	c.(3115-3117)cGt>cTt	p.R1039L	AMOT_ENST00000371962.1_Missense_Mutation_p.R807L|AMOT_ENST00000304758.1_Missense_Mutation_p.R630L|AMOT_ENST00000524145.1_Missense_Mutation_p.R1039L	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	1039					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TATAGACAAACGATGTGGTCC	0.488000													4	125					1	1	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51747892	51747892	+	Splice_Site	SNP	T	T	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr6:51747892T>C	ENST00000371117.3	-	46	7624	c.7350_splice	c.e46+1	p.K2450_splice	PKHD1_ENST00000340994.4_Splice_Site_p.K2450_splice	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2450					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCACTTACCTTGTGGGCAAA	0.388000													12	19					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201524011	201524011	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr2:201524011G>A	ENST00000374700.2	+	28	3536	c.3295G>A	c.(3295-3297)Gta>Ata	p.V1099I	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1099					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.V1099I(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CGGTTTGGCAGTAAAGGTAAC	0.498000													4	132					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142658506	142658506	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr7:142658506A>C	ENST00000355265.2	-	3	638	c.164T>G	c.(163-165)tTg>tGg	p.L55W	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	55					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAGCAGGCCCAAAATCAGGAT	0.567000													14	12					0	0	1	0	0
CNOT6L	246175	broad.mit.edu	37	4	78665985	78665985	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr4:78665985C>T	ENST00000504123.1	-	7	734	c.604G>A	c.(604-606)Gct>Act	p.A202T	CNOT6L_ENST00000506166.1_Intron|CNOT6L_ENST00000264903.4_Missense_Mutation_p.A202T			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	202					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGCCGGGTAGCGTATTTATCA	0.393000													13	13					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120510154	120510154	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:120510154C>T	ENST00000256646.2	-	8	1574	c.1355G>A	c.(1354-1356)cGt>cAt	p.R452H		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	452	EGF-like 11; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCTCACAACGAGGTCCTGC	0.498000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				10	111					0	0	1	0	0
EVI2B	2124	broad.mit.edu	37	17	29631309	29631309	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:29631309A>T	ENST00000330927.4	-	2	1473	c.1319T>A	c.(1318-1320)cTg>cAg	p.L440Q	EVI2B_ENST00000544462.1_Missense_Mutation_p.L455Q|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.L440Q	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	440						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TGGAGGTGGCAGGGATTCATT	0.363000													3	64					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98819232	98819232	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr10:98819232C>T	ENST00000266058.4	-	11	1315	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	SLIT1_ENST00000371041.3_Missense_Mutation_p.R357H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R357H	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	357					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GTTCAGGGAGCGGAGGCCCTG	0.622000													19	53					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			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.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								34	61					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56435582	56435582	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:56435582G>A	ENST00000584437.1	-	8	3510	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R392*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R478*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.R519*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R519*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R392*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R478*			Q68DV7	RNF43_HUMAN	ring finger protein 43	519						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGTCCACTCGCTGGGGATCC	0.592000													62	72					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953384	56953384	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:56953384T>C	ENST00000504904.3	-	7	1699	c.980A>G	c.(979-981)gAg>gGg	p.E327G	ZNF667_ENST00000292069.6_Missense_Mutation_p.E327G|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.E455G			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AAAAGGATTCTCTAAATGGTG	0.373000													8	119					0	0	1	0	0
ADRA1B	147	broad.mit.edu	37	5	159344767	159344767	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr5:159344767G>T	ENST00000306675.3	+	1	978	c.855G>T	c.(853-855)aaG>aaT	p.K285N		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	285					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	AACTTTTTAAGTTCTCCAGGG	0.498000													43	48					2.61675e-31	2.85464e-31	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144946590	144946590	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr8:144946590G>A	ENST00000525985.1	-	2	903	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W				P58107	EPIPL_HUMAN	epiplakin 1	278						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGTAGCGCCGCACCTCGGCA	0.682000													3	20					0	0	1	0	0
MPND	84954	broad.mit.edu	37	19	4357346	4357346	+	Missense_Mutation	SNP	G	G	A	rs61730129		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:4357346G>A	ENST00000599840.1	+	9	1128	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	MPND_ENST00000262966.8_Missense_Mutation_p.A365T|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000359935.4_Missense_Mutation_p.A315T			Q8N594	MPND_HUMAN	MPN domain containing	365	MPN.						peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACATCGACGCACAGATGGA	0.672000													3	48					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76849221	76849221	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chrX:76849221T>C	ENST00000373344.5	-	26	6269	c.6055A>G	c.(6055-6057)Aaa>Gaa	p.K2019E	ATRX_ENST00000395603.3_Missense_Mutation_p.K1981E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2019					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)	AGTACCATTTTCCCAGAATGC	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						44	9					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3779721	3779721	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:3779721A>C	ENST00000310132.6	-	9	1215	c.817T>G	c.(817-819)Ttc>Gtc	p.F273V	MATK_ENST00000585778.1_Missense_Mutation_p.F273V|MATK_ENST00000395040.2_Missense_Mutation_p.F232V|MATK_ENST00000395045.2_Missense_Mutation_p.F274V	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	273	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGTCCAGGAAGGCCTGGGCT	0.687000													43	63					0	0	1	0	0
PI3	5266	broad.mit.edu	37	20	43804672	43804672	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr20:43804672G>C	ENST00000243924.3	+	2	297	c.250G>C	c.(250-252)Gcc>Ccc	p.A84P		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	84	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GATCCGGTGCGCCATGTTGAA	0.512000													29	55					0	0	1	0	0
MOB3A	126308	broad.mit.edu	37	19	2076843	2076843	+	Silent	SNP	G	G	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:2076843G>A	ENST00000357066.3	-	4	970	c.591C>T	c.(589-591)ttC>ttT	p.F197F	MOB3A_ENST00000592280.1_Silent_p.F197F|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN	MOB kinase activator 3A	197						intracellular	metal ion binding										CGATGAGGCCGAACTCCTTGA	0.622000													22	28					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222828024	222828024	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:222828024G>A	ENST00000344922.5	+	18	4521	c.4496G>A	c.(4495-4497)cGc>cAc	p.R1499H	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.R377H|MIA3_ENST00000344441.6_Missense_Mutation_p.R1499H	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1499					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAAGATGACCGCAACTCACTA	0.448000													3	72					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48211013	48211013	+	Silent	SNP	C	C	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr16:48211013C>T	ENST00000394747.1	-	24	3709	c.3360G>A	c.(3358-3360)tcG>tcA	p.S1120S	ABCC11_ENST00000353782.5_Silent_p.S1120S|ABCC11_ENST00000356608.2_Silent_p.S1120S|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Silent_p.S1120S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1120						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AAGGAGCTTCCGAGACACACA	0.483000													14	27					0	0	1	0	0
SLC30A2	7780	broad.mit.edu	37	1	26371545	26371545	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:26371545G>A	ENST00000374278.3	-	2	430	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374276.3_Missense_Mutation_p.R72C	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	72					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	p.R72C(1)		cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		TACAGCTGGCGCTGGGCCTTC	0.532000													91	115					0	0	1	0	0
XCL1	6375	broad.mit.edu	37	1	168550354	168550354	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:168550354G>A	ENST00000367818.3	+	3	406	c.241G>A	c.(241-243)Gtc>Atc	p.V81I		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	81					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GAGAGACGTGGTCAGGAGCAT	0.483000													21	40					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60879010	60879010	+	Silent	SNP	A	A	G			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:60879010A>G	ENST00000544856.2	-	3	465	c.87T>C	c.(85-87)taT>taC	p.Y29Y	MARCH10_ENST00000583600.1_Silent_p.Y29Y|MARCH10_ENST00000311269.5_Silent_p.Y29Y|MARCH10_ENST00000456609.2_Silent_p.Y29Y			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	29							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAATTACCTGATACTCAGAGT	0.428000													19	137					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848875	73848875	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr8:73848875C>T	ENST00000523207.1	+	3	1873	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	429					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGAGCAGAAACGCCAAGAGAA	0.438000													4	56					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													2	4					0.0784	0.08064	1	1	0
ZNF749	388567	broad.mit.edu	37	19	57956845	57956845	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:57956845A>G	ENST00000334181.4	+	3	2579	c.2329A>G	c.(2329-2331)Agg>Ggg	p.R777G	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	777					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TACTGGAAAAAGGCCTTAGTG	0.393000													3	97					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:7577574T>C	ENST00000420246.2	-	7	839	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	236	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in 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.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)		GTTACACATGTAGTTGTAGTG	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			66	17					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													9	135	---	---	---	---					
SLFN11	91607	broad.mit.edu	37	17	33690253	33690273	+	In_Frame_Del	DEL	GGTCAGCAGGATCCGAGTTTG	GGTCAGCAGGATCCGAGTTTG	-			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:33690253_33690273delGGTCAGCAGGATCCGAGTTTG	ENST00000394566.1	-	4	826_846	c.554_574delCAAACTCGGATCCTGCTGACC	c.(553-576)cta>c	p.PNSDPADL185del	SLFN11_ENST00000308377.4_In_Frame_Del_p.PNSDPADL185del	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	185						nucleus	ATP binding	p.S187S(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGAAAATTAGGTCAGCAGGATCCGAGTTTGGGTCAGCAGG	0.412													20	134	---	---	---	---					
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:16640581_16640583delTGC	ENST00000546361.2	-	8	1156_1158	c.1005_1007delGCA	c.(1003-1008)caa>ca	p.QQ339del	CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	339	Gln-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.670													7	50	---	---	---	---					
TBC1D17	79735	broad.mit.edu	37	19	50387777	50387777	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:50387777delG	ENST00000221543.5	+	12	1604	c.1305delG	c.(1303-1305)gtfs	p.V435fs	TBC1D17_ENST00000535102.2_Frame_Shift_Del_p.V402fs	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	435	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		AGAACGAGGTGGATGCTTTCT	0.597													40	113	---	---	---	---					
MAPK8IP2	23542	broad.mit.edu	37	22	51044326	51044326	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr22:51044326delC	ENST00000399908.2	+	6	2006	c.1290delC	c.(1288-1290)cafs	p.H430fs	MAPK8IP2_ENST00000329492.3_Frame_Shift_Del_p.H695fs|MAPK8IP2_ENST00000442429.2_Frame_Shift_Del_p.H418fs|MAPK8IP2_ENST00000341339.4_Frame_Shift_Del_p.H316fs|MAPK8IP2_ENST00000399912.1_Frame_Shift_Del_p.H430fs|MAPK8IP2_ENST00000008876.5_Frame_Shift_Del_p.H401fs	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	696	Pro-rich.				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCCCTGCCACCAGGGCAACG	0.682													2	4	---	---	---	---					
