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
OPHN1	4983	broad.mit.edu	37	X	67413796	67413796	+	Splice_Site	SNP	T	T	C			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:67413796T>C	uc004dww.4	-	14	1433	c.1139_splice	c.e14-1	p.M380_splice	OPHN1_uc011mpg.2_Splice_Site_p.M380_splice	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	380	Rho-GAP.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TTAGCTCCACTGTTTCAAGCA	0.408000													14	32					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77087752	77087752	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr15:77087752C>T	uc002bby.3	-	6	700	c.641G>A	c.(640-642)cGt>cAt	p.R214H	SCAPER_uc002bbx.3_5'UTR|SCAPER_uc002bbz.1_Missense_Mutation_p.R79H|SCAPER_uc002bca.1_Missense_Mutation_p.R79H|SCAPER_uc002bcb.1_Missense_Mutation_p.R214H|SCAPER_uc002bcc.1_Missense_Mutation_p.R214H	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	213						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GGGAGCCAGACGAGGAGCTGG	0.418000													4	58					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711256	140711256	+	Silent	SNP	C	C	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr5:140711256C>A	uc003lji.2	+	0	1005	c.1005C>A	c.(1003-1005)atC>atA	p.I335I	PCDHGC5_uc011dan.2_Silent_p.I335I	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	338	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTACTGATCAAAGTTTTGG	0.418000													34	58					3.86903e-22	4.2873e-22	1	1	0
LONRF3	79836	broad.mit.edu	37	X	118123490	118123490	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:118123490C>A	uc004eqw.3	+	3	1210	c.1179C>A	c.(1177-1179)gaC>gaA	p.D393E	LONRF3_uc004eqx.3_Missense_Mutation_p.D352E|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Missense_Mutation_p.D137E	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	393					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						ACATGAAAGACCAGGAAGAAG	0.507000													4	51					0.150653	0.150653	1	1	0
RGPD3	653489	broad.mit.edu	37	2	107029596	107029596	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr2:107029596T>C	uc010ywi.1	-	21	5267	c.5210A>G	c.(5209-5211)aAt>aGt	p.N1737S		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1737	GRIP.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CAACATCGTATTTATAACAGG	0.438000													84	9					0	0	1	0	0
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240	byFrequency	TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:51076024G>A	uc004dph.3	+	1	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_uc004dpi.4_Silent_p.E69E	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 10 (NUDT10), mRNA.	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(16)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657000													3	46					0	0	1	0	0
CHST13	166012	broad.mit.edu	37	3	126261320	126261320	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr3:126261320C>T	uc003eja.3	+	2	970	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 13 (CHST13), mRNA.	309					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GCGCCTCTTCCGGGACATCAG	0.692000													4	13					0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15133702	15133702	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:15133702G>T	uc002nae.2	+	6	1370	c.1271G>T	c.(1270-1272)tGc>tTc	p.C424F		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	424					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AAGCTGCAGTGCCACATCACG	0.617000													9	14					3.09899e-07	3.25791e-07	1	1	0
ABCA7	10347	broad.mit.edu	37	19	1056970	1056970	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:1056970G>A	uc002lqw.4	+	33	4882	c.4651G>A	c.(4651-4653)Gcc>Acc	p.A1551T	ABCA7_uc002lqy.3_Missense_Mutation_p.A22T|ABCA7_uc010dsc.3_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1551					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.P1550Q(1)|p.P1550P(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTGTCCCGGCCAGCTTCAC	0.592000													4	144					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371010	76371010	+	Silent	SNP	G	G	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr11:76371010G>A	uc001oxq.4	-	2	1870	c.1627C>T	c.(1627-1629)Ctg>Ttg	p.L543L	LRRC32_uc001oxr.4_Silent_p.L543L|LRRC32_uc010rsf.2_Silent_p.L529L	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	543						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TTGTTTCGCAGGTCCAGCACC	0.637000													14	66					0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170236583	170236583	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr5:170236583G>A	uc003mau.3	+	8	1042	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	GABRP_uc011dev.2_Intron	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	282						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGTGACGACCGTGTTATCAAT	0.517000											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	79	78					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45127212	45127212	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr3:45127212T>C	uc003com.3	-	8	2564	c.2429A>G	c.(2428-2430)cAt>cGt	p.H810R		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	810						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ATTGTTGGGATGGGAGAAGGT	0.552000													12	140					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								23	29					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			42	2					0	0	1	0	0
BAGE	574	broad.mit.edu	37	21	11058322	11058322	+	Splice_Site	SNP	C	C	T			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr21:11058322C>T	uc002yiu.1	-	3	317	c.117_splice	c.e3-1	p.L39_splice	BAGE_uc002yit.1_Splice_Site_p.L39_splice|BAGE_uc002yiv.1_Splice_Site|BAGE_uc002yiw.1_Non-coding_Transcript	NM_182484	NP_872290	Q13072	BAGE1_HUMAN	Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.	39						extracellular region								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383000													8	144					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205210633	205210633	+	Splice_Site	SNP	A	A	G			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr1:205210633A>G	uc021pia.1	+	2	863	c.208_splice	c.e2-1	p.K70_splice	TMCC2_uc010prf.2_Splice_Site	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	70						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCCCCTTAAGAAAATCCAGCA	0.557000													34	33					0	0	1	0	0
FOS	2353	broad.mit.edu	37	14	75747676	75747676	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr14:75747676C>T	uc001xrn.3	+	3	897	c.692C>T	c.(691-693)gCc>gTc	p.A231V	FOS_uc010tva.2_Missense_Mutation_p.A195V|FOS_uc010asi.3_Missense_Mutation_p.A117V	NM_005252	NP_005243	P01100	FOS_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog (FOS), mRNA.	231					DNA methylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|SMAD protein signal transduction|Toll signaling pathway|cellular response to reactive oxygen species|inflammatory response|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		R-SMAD binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		CCAGAGGTTGCCACCCCGGAG	0.607000													4	153					0	0	1	0	0
MRPS12	6183	broad.mit.edu	37	19	39423018	39423018	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:39423018C>T	uc002okc.3	+	2	405	c.95C>T	c.(94-96)aCc>aTc	p.T32I	SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_5'Flank|SARS2_uc002oka.2_5'Flank|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_5'Flank|SARS2_uc010xus.1_5'Flank|MRPS12_uc002okd.3_Missense_Mutation_p.T32I|MRPS12_uc002oke.3_Missense_Mutation_p.T32I	NM_033362	NP_203527	O15235	RT12_HUMAN	Homo sapiens mitochondrial ribosomal protein S12 (MRPS12), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	32					translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)	2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCCATGGCTACCCTGAACCAG	0.652000													6	193					0	0	1	0	0
FBXL6	26233	broad.mit.edu	37	8	145580132	145580132	+	Silent	SNP	G	G	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr8:145580132G>A	uc003zcb.3	-	6	1129	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	C8ORFK29_uc011llb.2_5'Flank|C8ORFK29_uc010mfw.3_5'Flank|C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_Silent_p.P78P|FBXL6_uc003zca.3_Silent_p.P345P|FBXL6_uc010mfx.3_Silent_p.P112P|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA.	351					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCCTGGTCCGGGAGCCACCC	0.652000													59	58					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr22:22664606A>G	uc021wml.1	+	32		c.2706A>G			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GTCTTCATGCAAACTTGGTAT	0.398000													3	26					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10668901	10668901	+	Silent	SNP	G	G	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:10668901G>A	uc002moy.1	-	12	1236	c.1227C>T	c.(1225-1227)gaC>gaT	p.D409D	KRI1_uc002mow.1_Silent_p.D28D|KRI1_uc002mox.1_Silent_p.D405D	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Homo sapiens KRI1 homolog (S. cerevisiae) (KRI1), mRNA.	409	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGTAGTACTCGTCCCCAAAGC	0.602000													20	66					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74291461	74291461	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:74291461C>A	uc004ebz.3	-	8	1118	c.1093G>T	c.(1093-1095)Gag>Tag	p.E365*	ABCB7_uc010nlt.3_Nonsense_Mutation_p.E324*|ABCB7_uc004eca.3_Nonsense_Mutation_p.E364*|ABCB7_uc011mqn.2_Nonsense_Mutation_p.E338*|ABCB7_uc010nls.3_Nonsense_Mutation_p.E325*	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	364	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GAAGCAGTCTCATACGTCTTC	0.333000													23	38					1.50039e-11	1.61884e-11	1	1	0
PABPC1L	80336	broad.mit.edu	37	20	43559296	43559296	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr20:43559296C>T	uc010ggv.1	+	7	1250	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	PABPC1L_uc010zwq.1_Non-coding_Transcript|PABPC1L_uc002xmv.2_Non-coding_Transcript|PABPC1L_uc002xmw.2_5'Flank|PABPC1L_uc002xmx.3_5'Flank	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.	390							RNA binding|nucleotide binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CTCCACCATGCGGACCCTGAG	0.647000													8	389					0	0	1	0	0
CYP39A1	51302	broad.mit.edu	37	6	46518143	46518143	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr6:46518143G>A	uc003oyf.1	-	11	1574	c.1370C>T	c.(1369-1371)cCg>cTg	p.P457L	CYP39A1_uc011dwa.1_Missense_Mutation_p.P437L|CYP39A1_uc010jzd.1_Missense_Mutation_p.P285L	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	Homo sapiens cytochrome P450, family 39, subfamily A, polypeptide 1 (CYP39A1), mRNA.	457					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TTGCCCTTCCGGCTGGGGGAC	0.458000													18	38					0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43625420	43625420	+	Silent	SNP	A	A	G			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr9:43625420A>G	uc011lrb.2	-	3	3296	c.3267T>C	c.(3265-3267)tgT>tgC	p.C1089C		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	1089						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						ATGAGCCTTGACAGTTTGGGT	0.507000													143	185					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126776527	126776527	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr5:126776527G>A	uc003kuh.4	+	18	2692	c.2330G>A	c.(2329-2331)cGc>cAc	p.R777H	MEGF10_uc003kui.4_Missense_Mutation_p.R777H	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	777	EGF-like 14.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGTACTTGCCGCACTGGATTC	0.468000													4	122					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614765	247614765	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr1:247614765C>T	uc010pyx.2	-	0	520	c.520G>A	c.(520-522)Ggg>Agg	p.G174R		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G174R(2)|p.G174V(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACCTGCCGCCCGCAGAATGGC	0.597000													4	52					0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499792	59499792	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr15:59499792G>A	uc002agb.3	+	0	751	c.653G>A	c.(652-654)cGt>cAt	p.R218H	MYO1E_uc002aga.3_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA.	218					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GATACTGCTCGTTTTCGTTTC	0.438000													5	124					0	0	1	0	0
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:6531149_6531151delGCT	uc002mfh.2	+	0	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	41	Poly-Leu.				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768													7	104	---	---	---	---					
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:45911859_45911861delGAA	uc002pbr.1	+	2	645_647	c.639_641delGAA	c.(637-642)cggaag>cgg	p.K219del	PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_In_Frame_Del_p.K217del|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR	NM_012099	NP_036231	O15446	RPA34_HUMAN	Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA.	217					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	RNA polymerase I transcription factor complex|chromosome	DNA-directed RNA polymerase activity	p.N218fs*58(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													7	200	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38119882	38119884	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr22:38119882_38119884delCCT	uc003atr.3	+	6	1590_1592	c.1319_1321delCCT	c.(1318-1323)gcctcc>gcc	p.S442del	TRIOBP_uc003atu.3_In_Frame_Del_p.S270del|TRIOBP_uc003atq.1_In_Frame_Del_p.S442del|TRIOBP_uc003ats.1_In_Frame_Del_p.S270del	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	442					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601													8	196	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939758	76939762	+	Frame_Shift_Del	DEL	TTTCT	TTTCT	-			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:76939758_76939762delTTTCT	uc004ecp.4	-	8	1218_1222	c.986_990delAGAAA	c.(985-990)aagaaafs	p.K329fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K291fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K114fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K290fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K329fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K274fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	329					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AATCATCTAATTTCTTTTCTTCTCC	0.341			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						23	38	---	---	---	---					
MAGEA6	4105	broad.mit.edu	37	X	151870011	151870011	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:151870011delG	uc022chf.1	+	0	701	c.701delG	c.(700-702)aggfs	p.R234fs	MAGEA6_uc004ffq.1_Frame_Shift_Del_p.R234fs|MAGEA6_uc004ffr.1_Frame_Shift_Del_p.R234fs	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	234	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGAGGGGAGGGAAGACAGT	0.532													144	218	---	---	---	---					
